Canonical Allele Identifier: PA2573169952
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1414064
ClinVar RCV Id: RCV001928510 RCV003134236 RCV004010868
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Arg4674Gln
CA405681922
NM_000540.3:c.14021G>A