ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645426833
Gene: JAG1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000244534
RCV000597837
RCV001081833
RCV004547640
ClinVar Variation:
264345
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000205.1:p.Val272Ile
CA9765043
NM_000214.3:c.814G>A