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
NP_000085.1:p.Lys1533Asn
CA352687857
NM_000094.4:c.4599G>T
CA352687862
NM_000094.4:c.4599G>C