Allele Registry

Canonical Allele Identifier: PA645397545

Gene: COL17A1 HGNC NCBI

ClinVar RCV:

RCV000244902

RCV000344715

RCV001589234

RCV001711655

ClinVar Variation:

256266

HGVS (amino-acid)	Matching Registered Transcripts
NP_000485.3:p.Gly428Ser	CA5679079 NM_000494.4:c.1282G>A