Canonical Allele Identifier: PA2825195174
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3075272
ClinVar RCV Id: RCV004015798
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Val213Leu
CA405679239
NM_000540.3:c.637G>C
CA405679242
NM_000540.3:c.637G>T