ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA131304
Gene: JAG1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
42479
ClinVar RCV Id:
RCV000035334
RCV001056389
RCV004018738
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000205.1:p.Asn1195Asp
CA131303
NM_000214.3:c.3583A>G