ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105747
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000119629
RCV001588951
ClinVar Variation:
133140
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Asp166Asn
CA024475
NM_000540.3:c.496G>A