ClinGen Allele Registry
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Canonical Allele Identifier:
PA658803021
Gene: JAG1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000598181
RCV000810621
RCV002325129
RCV004553329
ClinVar Variation:
500687
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000205.1:p.Arg1116Trp
CA9764218
NM_000214.3:c.3346C>T