Canonical Allele Identifier: PA2741813949
Gene: NPC1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Cys914Ser
CA401792749
NM_000271.5:c.2741G>C
CA401792752
NM_000271.5:c.2740T>A