Canonical Allele Identifier: PA2825078814
Gene: HPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1306248
ClinVar RCV Id: RCV001767201 RCV002496092
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000186.2:p.Asp254Asn
CA5639303
NM_000195.5:c.760G>A