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: PA232079

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133195

ClinVar RCV Id: RCV000119697 RCV001216014 RCV001197604 RCV001802868

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Asp2431Tyr	CA024744 NM_000540.3:c.7291G>T