Canonical Allele Identifier: PA2573169988
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1355503
ClinVar RCV Id: RCV001876522 RCV003132562
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Asn4807del
CA2580614897
NM_000540.3:c.14419_14421del