ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA245083
Gene: JAG1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000205.1:p.Arg201Cys
NM_000214.3:c.601C>T