Canonical Allele Identifier: CA919452175
Gene: NPC2 HGNC NCBI

Linked Data

dbSNP Id: rs1566606207
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493556dup , CM000676.2:g.74493556dup GRCh38
NC_000014.8:g.74960259dup , CM000676.1:g.74960259dup GRCh37
NC_000014.7:g.74030012dup NCBI36
NG_007117.1:g.4827dup
NG_033074.1:g.4837dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-64+15dup ENSP00000450887.1:n.-64+15dup
ENST00000556009.5:c.147+476dup
Search 100 bp 5'
Search 100 bp 3'