ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658672988
Gene: JPH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
451220
ClinVar RCV Id:
RCV000523455
RCV002527622
RCV002476061
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065166.2:p.Thr76Ala
CA9868910
NM_020433.5:c.226A>G