Allele Registry

Canonical Allele Identifier: PA341631

Gene: HPS1 HGNC NCBI

ClinVar RCV:

RCV002042388

RCV004526896

RCV004527060

ClinVar Variation:

1499624

3233780

HGVS (amino-acid)	Matching Registered Transcripts
NP_000186.2:p.Leu668Pro	CA341630 NM_000195.5:c.2003T>C CA2825001735 NM_000195.5:c.2001_2003delinsCCC