Canonical Allele Identifier: PA2499233203
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1039754
ClinVar RCV Id: RCV001343295 RCV004005185
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala4747Thr
CA081142
NM_000540.3:c.14239G>A