ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658663881
Gene: JAG1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
452945
ClinVar RCV Id:
RCV000522322
RCV002528288
RCV002431493
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000205.1:p.Ala833Val
CA9764482
NM_000214.3:c.2498C>T