Canonical Allele Identifier: PA2580507117
Gene: NIPBL HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_597677.2:p.Lys2474Asn
CA3237202
NM_133433.4:c.7422G>C
CA359515204
NM_133433.4:c.7422G>T