Canonical Allele Identifier: PA2580130159
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2435511
ClinVar RCV Id: RCV003135821
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Met4875Ile
CA405688042
NM_000540.3:c.14625G>A
CA405688044
NM_000540.3:c.14625G>C
CA405688046
NM_000540.3:c.14625G>T