Canonical Allele Identifier: PA2827166113
Gene: HPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2184479
ClinVar RCV Id: RCV002603319
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001309413.1:p.Asp110Tyr
CA5639311
NM_001322484.2:c.328G>T