Canonical Allele Identifier: PA2580109935
Gene: NPC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Cys184Ser
CA401782436
NM_000271.5:c.551G>C
CA401782449
NM_000271.5:c.550T>A