ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580504844
Gene: ATRIP
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_569055.1:p.Thr343Asn
CA2376117
NM_130384.3:c.1028C>A