ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658803016
Gene: JAG1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497732
ClinVar RCV Id:
RCV000595584
RCV000864526
RCV001712606
RCV004553312
RCV004024717
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000205.1:p.Pro1099Leu
CA9764231
NM_000214.3:c.3296C>T