Allele Registry

Canonical Allele Identifier: PA2826943147

Gene: HPS1 HGNC NCBI

ClinVar RCV:

RCV002042388

RCV004526896

RCV004527060

ClinVar Variation:

1499624

3233780

HGVS (amino-acid)	Matching Registered Transcripts
NP_001298274.1:p.Leu344Pro	CA341630 NM_001311345.2:c.1031T>C CA2825001735 NM_001311345.2:c.1029_1031delinsCCC