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
ENSP00000497653.1:p.Thr1048Ser
CA378067211
ENST00000648076.2:c.3143C>G
CA378067214
ENST00000648076.2:c.3142A>T