Canonical Allele Identifier: PA2573169949
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1384970
ClinVar RCV Id: RCV001897863

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Phe4672Leu
CA060776
NM_000540.3:c.14014T>C
CA405681886
NM_000540.3:c.14016T>A
CA405681887
NM_000540.3:c.14016T>G