Canonical Allele Identifier: PA1139681285
Gene: NPC1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Asp170Glu
CA297075319
NM_000271.5:c.510C>G
CA401782756
NM_000271.5:c.510C>A