Canonical Allele Identifier: PA658668290
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 478302
ClinVar RCV Id: RCV000557021 RCV001093152 RCV002289773 RCV003999521 RCV003994018
ClinVar Variation Id: 1059238
ClinVar RCV Id: RCV001368477 RCV002476680 RCV003132478 RCV004006811
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Met3266Leu
CA074157
NM_000540.3:c.9796A>C
CA405692064
NM_000540.3:c.9796A>T