Canonical Allele Identifier: PA145952
Gene: NPC1 HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000262.2:p.Met642Ile
NM_000271.5:c.1926G>A

NM_000271.5:c.1926G>C

NM_000271.5:c.1926G>T