ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139683990
Gene: JAG1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000205.1:p.Pro972Ala
CA408244693
NM_000214.3:c.2914C>G