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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA409093579
Gene: JPH2
HGNC
NCBI
Linked Data
COSMIC:
COSM6325946
MyVariant Identifiers:
chr20:g.42788594G>A (hg19)
chr20:g.44159954G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.44159954G>A , CM000682.2:g.44159954G>A
GRCh38
NC_000020.10:g.42788594G>A , CM000682.1:g.42788594G>A
GRCh37
NC_000020.9:g.42222008G>A
NCBI36
NG_031867.1:g.32625C>T , LRG_394:g.32625C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000372980.4:c.833C>T
MANE Select
ENSP00000362071.3:p.Pro278Leu
ENST00000372980.3:c.833C>T
ENSP00000362071.3:p.Pro278Leu
NM_020433.4:c.833C>T , LRG_394t1:c.833C>T
NP_065166.2:p.Pro278Leu
XM_006723832.2:c.833C>T
XP_006723895.1:p.Pro278Leu
NM_020433.5:c.833C>T
MANE Select
NP_065166.2:p.Pro278Leu
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