ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658802986
Gene: JAG1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
515262
ClinVar RCV Id:
RCV000610679
RCV001868072
RCV003362862
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000205.1:p.Thr373Ala
CA408238638
NM_000214.3:c.1117A>G