Canonical Allele Identifier: PA103348
Gene: NPC1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Val1212Leu
CA8912687
NM_000271.5:c.3634G>T
CA401790759
NM_000271.5:c.3634G>C