ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573163613
Gene: JAG1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001989225
RCV002479705
RCV003170463
RCV004553615
ClinVar Variation:
1494264
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000205.1:p.Arg1181Lys
CA9764191
NM_000214.3:c.3542G>A