ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580108953
Gene: JAG1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002585054
RCV003161859
RCV004550408
ClinVar Variation:
2174201
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000205.1:p.Ser1101Asn
CA9764228
NM_000214.3:c.3302G>A