Canonical Allele Identifier: PA2580110415
Gene: NPC1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Trp1145Cys
CA401791202
NM_000271.5:c.3435G>T
CA401791203
NM_000271.5:c.3435G>C