Canonical Allele Identifier: PA3085446644
Gene: NPC1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Val950Leu
CA401792497
NM_000271.5:c.2848G>T
CA401792498
NM_000271.5:c.2848G>C