Canonical Allele Identifier: CA2838264839
Gene: NXPE2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.114472029C>T , CM000673.2:g.114472029C>T GRCh38
NC_000011.9:g.114342751C>T , CM000673.1:g.114342751C>T GRCh37
NC_000011.8:g.113847961C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_948034.1:n.1184+5080C>T
XM_017017209.1:c.-483+5080C>T XP_016872698.1:n.-483+5080C>T
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