Allele Registry

Canonical Allele Identifier: PA2827165502

Gene: HPS1 HGNC NCBI

ClinVar RCV:

RCV002042388

RCV004526896

RCV004527060

ClinVar Variation:

1499624

3233780

HGVS (amino-acid)	Matching Registered Transcripts
NP_001309411.1:p.Leu548Pro	CA341630 NM_001322482.2:c.1643T>C CA2825001735 NM_001322482.2:c.1641_1643delinsCCC