Canonical Allele Identifier: CA2550234441
Gene: NPC2 HGNC NCBI

Linked Data

gnomAD v4: 14-74493523-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493523C>A , CM000676.2:g.74493523C>A GRCh38
NC_000014.8:g.74960226C>A , CM000676.1:g.74960226C>A GRCh37
NC_000014.7:g.74029979C>A NCBI36
NG_007117.1:g.4859G>T
NG_033074.1:g.4804C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-64+47G>T ENSP00000450887.1:n.-64+47G>T
ENST00000556009.5:c.147+508G>T
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