Canonical Allele Identifier: PA2825203931
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3074032
ClinVar RCV Id: RCV004012574

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Asp4219Glu
CA405670856
NM_000540.3:c.12657C>A
CA405670857
NM_000540.3:c.12657C>G