Canonical Allele Identifier: CA2741390380
Gene: NPC2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493513C>T , CM000676.2:g.74493513C>T GRCh38
NC_000014.8:g.74960216C>T , CM000676.1:g.74960216C>T GRCh37
NC_000014.7:g.74029969C>T NCBI36
NG_007117.1:g.4869G>A
NG_033074.1:g.4794C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-64+57G>A ENSP00000450887.1:n.-64+57G>A
ENST00000556009.5:c.147+518G>A
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