ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499229765
Gene: JAG1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1018158
ClinVar RCV Id:
RCV001317418
RCV001776192
RCV004034424
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000205.1:p.Thr1177Met
CA9764193
NM_000214.3:c.3530C>T