ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499229716
Gene: JAG1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1023815
ClinVar RCV Id:
RCV001323921
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000205.1:p.Tyr192Cys
CA408240208
NM_000214.3:c.575A>G