ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA221429
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000079381
RCV000391386
RCV000656194
RCV001093747
RCV001189215
RCV002498396
RCV003380409
RCV003997206
ClinVar Variation:
93480
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Ala328Thr
CA011326
NM_001035.3:c.982G>A