ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825195807
Gene: RYR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
1200304
ClinVar RCV:
RCV001580390
ClinVar Variation:
1210299
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Ala612Pro
CA308125185
NM_000540.3:c.1834G>C