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: COL7A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000332371.8:p.Phe1998Leu
CA352664067
ENST00000328333.12:c.5994T>A
CA352664068
ENST00000328333.12:c.5994T>G
CA352664082
ENST00000328333.12:c.5992T>C