Canonical Allele Identifier: PA645392728
Gene: HPS6 HGNC NCBI

Linked Data

ClinVar Variation Id: 282566
ClinVar RCV Id: RCV000374767 RCV000369294 RCV001820815 RCV003939961
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_079023.2:p.Arg113Trp
CA5659773
NM_024747.6:c.337C>T