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Canonical Allele Identifier: Get Identifier
Gene: NPC1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.[His530_Asp552del;Asn554_Thr559del]
CA2641272387
NM_000271.5:c.1589dup