Allele Registry

Canonical Allele Identifier: PA2580196695

Gene: BLOC1S6 HGNC NCBI

ClinVar RCV:

RCV002577323

ClinVar Variation:

1901904

HGVS (amino-acid)	Matching Registered Transcripts
NP_001298185.1:p.Gly42Arg	CA270014570 NM_001311256.1:c.124G>C CA392298650 NM_001311256.1:c.124G>A