ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA231865
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
133059
ClinVar RCV Id:
RCV000119501
RCV001449997
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Gly4734Glu
CA024112
NM_000540.3:c.14201G>A