ClinGen Allele Registry
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Canonical Allele Identifier:
PA132984
Gene: RYR2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
52973
ClinVar RCV:
RCV000036765
RCV001189710
RCV002496574
RCV002513431
RCV003996289
RCV004528183
ClinVar Variation:
43804
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026.2:p.Ser1754Thr
CA009814
NM_001035.3:c.5261G>C