Canonical Allele Identifier: PA913194812
Gene: NPC1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Gln60His
CA8913815
NM_000271.5:c.180G>T
CA401787304
NM_000271.5:c.180G>C