Canonical Allele Identifier: PA2741813924
Gene: NPC1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Cys479Ser
CA401775698
NM_000271.5:c.1436G>C
CA401775702
NM_000271.5:c.1435T>A