ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658802966
Gene: JAG1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000592427
RCV001039478
RCV002476291
RCV003160015
ClinVar Variation:
498358
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000205.1:p.Arg7Cys
CA311357576
NM_000214.3:c.19C>T