Allele Registry

Canonical Allele Identifier: PA645381236

Gene: COL7A1 HGNC NCBI

ClinVar RCV:

RCV000484222

ClinVar Variation:

419484

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Gly2563Asp	CA16617980 NM_000094.4:c.7688G>A