ClinGen Allele Registry
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Canonical Allele Identifier:
PA245083
Gene: JAG1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000178063
RCV000697814
RCV001175471
RCV004553002
ClinVar Variation:
197123
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000205.1:p.Arg201Cys
CA245082
NM_000214.3:c.601C>T