ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825422696
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
65943
ClinVar RCV Id:
RCV000056190
RCV000119489
RCV000687662
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Gly4633Ser
CA024082
NM_001042723.2:c.13897G>A