Canonical Allele Identifier: PA2827165181
Gene: HPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 298346
ClinVar RCV Id: RCV000366388 RCV002520519
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001309411.1:p.Pro144Leu
CA5639315
NM_001322482.2:c.431C>T