Canonical Allele Identifier: PA645456439
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 379371
ClinVar RCV Id: RCV000443374 RCV000696501 RCV001796038
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala4397Gly
CA16607802
NM_000540.3:c.13190C>G