Canonical Allele Identifier: PA102610
Gene: NPC1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Gly1034Arg
CA401791940
NM_000271.5:c.3100G>A
CA401791941
NM_000271.5:c.3100G>C