Canonical Allele Identifier: PA2573162163
Gene: COL7A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly2049Arg
CA352662976
NM_000094.4:c.6145G>C
CA352662978
NM_000094.4:c.6145G>A