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: PA2825195234

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1476084

ClinVar RCV Id: RCV002008037 RCV004011032

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Gly248Trp	CA069619 NM_000540.3:c.742G>T