Canonical Allele Identifier: PA2499233206
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 999164
ClinVar RCV Id: RCV001295124
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Trp4779Arg
CA405685218
NM_000540.3:c.14335T>A
CA405685221
NM_000540.3:c.14335T>C