Canonical Allele Identifier: PA099624
Gene: COL7A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly1845Arg
CA352671213
NM_000094.4:c.5533G>A
CA352671214
NM_000094.4:c.5533G>C