Allele Registry

Canonical Allele Identifier: PA095136

Gene: COL17A1 HGNC NCBI

ClinVar RCV:

RCV001781284

RCV002247369

RCV002279925

ClinVar Variation:

17650

HGVS (amino-acid)	Matching Registered Transcripts
NP_000485.3:p.Arg1303Gln	CA127324 NM_000494.4:c.3908G>A