ClinGen Allele Registry
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Canonical Allele Identifier:
PA915962482
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000119664
RCV001580401
ClinVar Variation:
133166
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001036188.1:p.Val2212Asp
CA024628
NM_001042723.2:c.6635T>A