Canonical Allele Identifier: PA3071443087
Gene: NIPBL HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056199.2:p.Gln458His
CA359486958
NM_015384.5:c.1374G>C
CA359486960
NM_015384.5:c.1374G>T