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: PA658801694

Gene: RYR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 505990

ClinVar RCV Id: RCV000610740 RCV000621630

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001026.2:p.Met2084Val	CA345410741 NM_001035.3:c.6250A>G