Canonical Allele Identifier: PA106471
Gene: RYR1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Val2117Leu
CA024566
NM_000540.3:c.6349G>C
CA405663631
NM_000540.3:c.6349G>T