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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:
CA399583593
Gene: CAVIN1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr17:g.40557039C>T (hg19)
chr17:g.42405021C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.42405021C>T , CM000679.2:g.42405021C>T
GRCh38
NC_000017.10:g.40557039C>T , CM000679.1:g.40557039C>T
GRCh37
NC_000017.9:g.37810565C>T
NCBI36
NG_015845.1:g.23300G>A
NG_015845.2:g.23300G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000357037.6:c.839G>A
MANE Select
ENSP00000349541.4:p.Arg280His
ENST00000357037.5:c.839G>A
ENSP00000349541.4:p.Arg280His
NM_012232.5:c.839G>A
NP_036364.2:p.Arg280His
NM_012232.6:c.839G>A
MANE Select
NP_036364.2:p.Arg280His
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