Canonical Allele Identifier: PA2573061231
Gene: COL7A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly1673Arg
CA352679800
NM_000094.4:c.5017G>C
CA352679815
NM_000094.4:c.5017G>A