Allele Registry

Canonical Allele Identifier: PA099804

Gene: COL7A1 HGNC NCBI

ClinVar RCV:

RCV000479380

ClinVar Variation:

419628

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Gly2043Trp	CA16617983 NM_000094.4:c.6127G>T