Allele Registry

Canonical Allele Identifier: PA2580542868

Gene: ABCB5 HGNC NCBI

ClinVar RCV:

RCV004075500

ClinVar Variation:

2213726

HGVS (amino-acid)	Matching Registered Transcripts
NP_848654.3:p.Val748Leu	CA4177742 NM_178559.6:c.2242G>T CA366928770 NM_178559.6:c.2242G>C