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.Thr1948Ser
CA352665727
ENST00000328333.12:c.5843C>G
CA352665740
ENST00000328333.12:c.5842A>T