Canonical Allele Identifier: PA658681042
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 478247
ClinVar RCV Id: RCV000549359 RCV003514377
ClinVar Variation Id: 2156783
ClinVar RCV Id: RCV003079421 RCV003130828
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Met2064Ile
CA067879
NM_000540.3:c.6192G>C
CA308100633
NM_000540.3:c.6192G>A
CA405662157
NM_000540.3:c.6192G>T