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: PA2825420699

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3070754

ClinVar RCV Id: RCV004013264

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.His2441Asp	CA069482 NM_001042723.2:c.7321C>G