Canonical Allele Identifier: PA2499230652
Gene: NPC1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Pro424Ser
CA401777299
NM_000271.5:c.1270C>T
CA645600335
NM_000271.5:c.1269_1270delinsTT