Allele Registry

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Canonical Allele Identifier: PA2827166570

Gene: HPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1507519

ClinVar RCV Id: RCV002048096 RCV002498033

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001309414.1:p.Asp110Glu	CA378052147 NM_001322485.2:c.330C>A CA378052149 NM_001322485.2:c.330C>G