Canonical Allele Identifier: PA102569
Gene: NPC1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Glu612Asp
CA401772946
NM_000271.5:c.1836A>T
CA401772950
NM_000271.5:c.1836A>C