This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: COL17A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000358748.3:p.Phe1180Leu
CA378065846
ENST00000369733.8:c.3540C>G
CA378065847
ENST00000369733.8:c.3540C>A
CA378065853
ENST00000369733.8:c.3538T>C