Canonical Allele Identifier: PA2825203947
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3070273
ClinVar RCV Id: RCV004011791

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Lys4229Asn
CA405670921
NM_000540.3:c.12687G>C
CA405670922
NM_000540.3:c.12687G>T