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Canonical Allele Identifier: Get Identifier
Gene: NPC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000269228.4:p.Met642Ile
ENST00000269228.10:c.1926G>A

ENST00000269228.10:c.1926G>C

ENST00000269228.10:c.1926G>T