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: PA2580129915

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2435582

ClinVar RCV Id: RCV003130459

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Glu4677Asp	CA081048 NM_000540.3:c.14031G>C CA405682026 NM_000540.3:c.14031G>T