ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658802992
Gene: JAG1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000596400
RCV002065158
RCV004553316
ClinVar Variation:
498807
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000205.1:p.Arg472His
CA9764848
NM_000214.3:c.1415G>A