Canonical Allele Identifier: PA2830413415
Gene: HPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2179527
ClinVar RCV Id: RCV002599136
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_872577.1:p.Asp233His
CA212767098
NM_182639.4:c.697G>C