Allele Registry

Canonical Allele Identifier: PA2573061230

Gene: COL7A1 HGNC NCBI

ClinVar RCV:

RCV002478004

RCV002544207

RCV003247021

RCV003388612

ClinVar Variation:

1319567

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Arg1482Gln	CA2380013 NM_000094.4:c.4445G>A