Canonical Allele Identifier: CA2625667442
Gene: NPC2 HGNC NCBI

Linked Data

gnomAD v4: 14-74493521-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493521C>T , CM000676.2:g.74493521C>T GRCh38
NC_000014.8:g.74960224C>T , CM000676.1:g.74960224C>T GRCh37
NC_000014.7:g.74029977C>T NCBI36
NG_007117.1:g.4861G>A
NG_033074.1:g.4802C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-64+49G>A ENSP00000450887.1:n.-64+49G>A
ENST00000556009.5:c.147+510G>A
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