Canonical Allele Identifier: PA915962597
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65953
ClinVar RCV Id: RCV000056200 RCV000119708 RCV001383435 RCV001588885
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Ile2453Thr
CA024775
NM_001042723.2:c.7358T>C