ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658803022
Gene: JAG1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
501666
ClinVar RCV Id:
RCV000596683
RCV001337732
RCV002325132
RCV004553338
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000205.1:p.Arg1116Gln
CA311367451
NM_000214.3:c.3347G>A