ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658803023
Gene: JAG1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
536530
ClinVar RCV Id:
RCV000645016
RCV000765485
RCV004547815
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000205.1:p.Ala1131Thr
CA9764212
NM_000214.3:c.3391G>A