ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826531109
Gene: ATRIP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001257951.1:p.Ala493Val
CA352730148
NM_001271022.2:c.1478C>T