Canonical Allele Identifier: PA891865308
Gene: RYR1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ile4898Asn
CA405690302
NM_000540.3:c.14693T>A