ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645456305
Gene: RYR1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
329068
ClinVar RCV Id:
RCV000310433
RCV000340504
RCV000344167
RCV000405550
RCV000721666
RCV001069116
RCV002504108
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000531.2:p.Asp2605Asn
CA070324
NM_000540.3:c.7813G>A