Canonical Allele Identifier: PA2827163159
Gene: HPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1507519
ClinVar RCV Id: RCV002048096 RCV002498033
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001309407.1:p.Asp233Glu
CA378052147
NM_001322478.1:c.699C>A
CA378052149
NM_001322478.1:c.699C>G