Canonical Allele Identifier: PA913191567
Gene: COL7A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly2374Arg
CA2378641
NM_000094.4:c.7120G>A
CA352651191
NM_000094.4:c.7120G>C