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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:
CA2689952164
Gene: GRHPR
HGNC
NCBI
Linked Data
gnomAD v4:
9-37422658-T-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.37422658T>A , CM000671.2:g.37422658T>A
GRCh38
NC_000009.11:g.37422655T>A , CM000671.1:g.37422655T>A
GRCh37
NC_000009.10:g.37412655T>A
NCBI36
NG_008135.1:g.4949T>A
Transcript Alleles
HGVS
Amino-acid change
XM_024447716.1:c.209T>A
XP_024303484.1:p.Leu70His
XM_024447717.1:c.209T>A
XP_024303485.1:p.Leu70His
XR_002956828.1:n.224T>A
XR_002956829.1:n.224T>A
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