Canonical Allele Identifier: PA2580129989
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1990574
ClinVar RCV Id: RCV002800974 RCV003130760
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ser4800Phe
CA405686958
NM_000540.3:c.14399C>T