Canonical Allele Identifier: PA2825422953
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 133075
ClinVar RCV Id: RCV000119524 RCV000148830 RCV000616859 RCV001132276 RCV002247501 RCV001588937 RCV002498549 RCV000546614
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001036188.1:p.Val4837Met
CA024165
NM_001042723.2:c.14509G>A