Allele Registry

Canonical Allele Identifier: PA204961

Gene: COL17A1 HGNC NCBI

ClinVar RCV:

RCV000190896

RCV003556236

ClinVar Variation:

208977

HGVS (amino-acid)	Matching Registered Transcripts
NP_000485.3:p.Thr939Ile	CA204960 NM_000494.4:c.2816C>T