ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105180
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000119701
RCV001802870
ClinVar Variation:
133197
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Ala2437Val
CA024756
NM_000540.3:c.7310C>T