Canonical Allele Identifier: PA2573166685
Gene: NPC1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Val664Leu
CA8913241
NM_000271.5:c.1990G>C
CA401771678
NM_000271.5:c.1990G>T