ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580108262
Gene: JAG1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2049576
ClinVar RCV Id:
RCV002914086
RCV004066257
RCV004548405
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000205.1:p.Thr169Met
CA9765117
NM_000214.3:c.506C>T