Canonical Allele Identifier: PA2825195807
Gene: RYR1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000531.2:p.Ala612Pro
CA308125185
NM_000540.3:c.1834G>C