ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825422693
Gene: RYR1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000056242
RCV000119488
RCV000536286
ClinVar Variation:
65995
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Thr4632Ile
CA024080
NM_001042723.2:c.13895C>T