Canonical Allele Identifier: PA2580109931
Gene: NPC1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Gly178Arg
CA401782593
NM_000271.5:c.532G>C
CA401782596
NM_000271.5:c.532G>A