ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658803026
Gene: JAG1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000596800
RCV001854061
RCV002456305
RCV002491208
RCV004553327
ClinVar Variation:
500525
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000205.1:p.Val1218Ile
CA9764165
NM_000214.3:c.3652G>A