ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658802997
Gene: JAG1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
500328
ClinVar RCV Id:
RCV000593468
RCV000727161
RCV001208418
RCV004553323
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000205.1:p.Arg543His
CA9764801
NM_000214.3:c.1628G>A