Canonical Allele Identifier: PA645456148
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 329024
ClinVar RCV Id: RCV000284701 RCV000339681 RCV000383916 RCV000721532 RCV000393166 RCV001217688
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Thr1431Met
CA065830
NM_000540.3:c.4292C>T