ClinGen Allele Registry
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Canonical Allele Identifier:
PA658681733
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003153701
RCV003532167
RCV003999129
ClinVar Variation:
463640
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Ala2542Thr
CA087436
NM_001035.3:c.7624G>A