Canonical Allele Identifier: PA2825200282
Gene: RYR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2435515
ClinVar RCV Id: RCV003130437

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Phe2239Leu
CA068582
NM_000540.3:c.6717C>G
CA405666272
NM_000540.3:c.6715T>C
CA405666277
NM_000540.3:c.6717C>A