Canonical Allele Identifier: PA2580110096
Gene: NPC1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Gly539Arg
CA401774795
NM_000271.5:c.1615G>C
CA401774796
NM_000271.5:c.1615G>A