Canonical Allele Identifier: PA2827164686
Gene: HPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2151699
ClinVar RCV Id: RCV003061472
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001309410.1:p.Arg143Cys
CA5639318
NM_001322481.2:c.427C>T