Canonical Allele Identifier: PA2827166108
Gene: HPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1684358
ClinVar RCV Id: RCV002245364 RCV003093961
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001309413.1:p.Arg107His
CA5639317
NM_001322484.2:c.320G>A