Canonical Allele Identifier: PA2826856553
Gene: NPC1L1 HGNC NCBI
ClinVar RCV:
RCV000002738
ClinVar Variation:
2620
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001287896.1:p.Val55Leu
CA115646
NM_001300967.2:c.163G>T
CA4242524
NM_001300967.2:c.163G>C