ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645427426
Gene: JAG1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
337745
ClinVar RCV Id:
RCV000310081
RCV000592285
RCV001506176
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000205.1:p.Pro1174Leu
CA9764197
NM_000214.3:c.3521C>T