Canonical Allele Identifier: PA2499228338
Gene: COL7A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly2689Arg
CA2378173
NM_000094.4:c.8065G>A
CA352640688
NM_000094.4:c.8065G>C