Canonical Allele Identifier: PA2573166873
Gene: NPC1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Val1165Leu
CA8912745
NM_000271.5:c.3493G>T
CA401791069
NM_000271.5:c.3493G>C