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: PA232085

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133198

ClinVar RCV Id: RCV000119702 RCV001802871

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Glu2439Asp	CA024758 NM_000540.3:c.7317G>C CA405669669 NM_000540.3:c.7317G>T