ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA212099
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
224405
ClinVar RCV Id:
RCV000209997
RCV001853352
RCV002500679
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Gly4730Val
CA060978
NM_000540.3:c.14189G>T