Canonical Allele Identifier: PA2573062139
Gene: NPC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1180791
ClinVar RCV Id: RCV001814520
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000262.2:p.Phe995Leu
CA401792201
NM_000271.5:c.2985C>G
CA401792202
NM_000271.5:c.2985C>A
CA401792207
NM_000271.5:c.2983T>C