Allele Registry

Canonical Allele Identifier: PA2825964976

Gene: ABCB5 HGNC NCBI

ClinVar RCV:

RCV004075500

ClinVar Variation:

2213726

HGVS (amino-acid)	Matching Registered Transcripts
NP_001157413.1:p.Val1193Leu	CA4177742 NM_001163941.2:c.3577G>T CA366928770 NM_001163941.2:c.3577G>C