Allele Registry

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.

Canonical Allele Identifier: PA2826299227

Gene: GHR HGNC NCBI

Linked Data

ClinVar Variation Id: 8632

ClinVar RCV Id: RCV000009164

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001229330.1:p.Phe114Ser	CA119790 NM_001242401.4:c.341T>C