ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645427309
Gene: JAG1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289185
ClinVar RCV Id:
RCV000369805
RCV000366468
RCV000726296
RCV001083154
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000205.1:p.Pro777Ser
CA9764557
NM_000214.3:c.2329C>T