Allele Registry

Canonical Allele Identifier: PA259885

Gene: HPS6 HGNC NCBI

ClinVar RCV:

RCV000023652

RCV003114201

ClinVar Variation:

30675

HGVS (amino-acid)	Matching Registered Transcripts
NP_079023.2:p.Thr272Ile	CA259883 NM_024747.6:c.815C>T