ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658803011
Gene: JAG1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
500949
ClinVar RCV Id:
RCV000591569
RCV001482684
RCV002438541
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000205.1:p.Thr976Met
CA9764340
NM_000214.3:c.2927C>T