Canonical Allele Identifier: PA232114
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133215
ClinVar RCV Id: RCV000119734 RCV001854586 RCV002492412 RCV003997321
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Val2630Leu
CA024872
NM_000540.3:c.7888G>C
CA405673969
NM_000540.3:c.7888G>T