Allele Registry

Canonical Allele Identifier: PA3057551417

Gene: COL7A1 HGNC NCBI

ClinVar RCV:

RCV005024663

ClinVar Variation:

3589242

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Gly2683Cys	CA352640804 NM_000094.4:c.8047G>T