Allele Registry

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Canonical Allele Identifier: PA2827166133

Gene: HPS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2185601

ClinVar RCV Id: RCV002632536

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001309413.1:p.Asp130Glu	CA378051896 NM_001322484.2:c.390C>G CA378051898 NM_001322484.2:c.390C>A