Canonical Allele Identifier: PA891865292
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 590451
ClinVar RCV Id: RCV000721368
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Asn4806Lys
CA405687027
NM_000540.3:c.14418C>A
CA405687028
NM_000540.3:c.14418C>G