Canonical Allele Identifier: PA645456443
Gene: RYR1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Leu4454_Gly4455dup
CA10642773
NM_000540.3:c.13359_13364dup