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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:
CA356657344
Gene: KLB
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr4:g.39448448A>G (hg19)
chr4:g.39446828A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.39446828A>G , CM000666.2:g.39446828A>G
GRCh38
NC_000004.11:g.39448448A>G , CM000666.1:g.39448448A>G
GRCh37
NC_000004.10:g.39124843A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000257408.5:c.2102A>G
MANE Select
ENSP00000257408.4:p.Tyr701Cys
ENST00000257408.4:c.2102A>G
ENSP00000257408.4:p.Tyr701Cys
NM_175737.3:c.2102A>G
NP_783864.1:p.Tyr701Cys
XM_005262644.1:c.2075A>G
XP_005262701.1:p.Tyr692Cys
NM_175737.4:c.2102A>G
MANE Select
NP_783864.1:p.Tyr701Cys
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