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: PA2825421513

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93244

ClinVar RCV Id: RCV000079120 RCV000356593 RCV000265131 RCV000357591 RCV000299239 RCV000538736 RCV001719822 RCV003997196

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001036188.1:p.His3642Gln	CA023875 NM_001042723.2:c.10926C>G CA405649685 NM_001042723.2:c.10926C>A