Canonical Allele Identifier: PA2499228311
Gene: COL7A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly2354Arg
CA2378701
NM_000094.4:c.7060G>C
CA352652122
NM_000094.4:c.7060G>A