ClinGen Allele Registry
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Canonical Allele Identifier:
PA645427226
Gene: JAG1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
337755
ClinVar RCV Id:
RCV000260977
RCV000626304
RCV001795956
RCV001795955
RCV002392902
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000205.1:p.Ala480Val
CA9764843
NM_000214.3:c.1439C>T