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: PA2825194950

Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 808526

ClinVar RCV Id: RCV000996852

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000531.2:p.Glu39Gly	CA405671867 NM_000540.3:c.116A>G