ClinGen Allele Registry
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Canonical Allele Identifier:
PA645455981
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
328990
ClinVar RCV Id:
RCV000290848
RCV000324922
RCV000331806
RCV000384205
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Gly2Ala
CA10642691
NM_000540.3:c.5G>C