Canonical Allele Identifier: PA2825201314
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2662343
ClinVar RCV Id: RCV003443838
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Met2639Leu
CA308113591
NM_000540.3:c.7915A>C
CA405674252
NM_000540.3:c.7915A>T