ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658802977
Gene: JAG1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
499992
ClinVar RCV Id:
RCV000658070
RCV000697734
RCV002491201
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000205.1:p.Thr174Met
CA9765115
NM_000214.3:c.521C>T