Allele Registry

Canonical Allele Identifier: PA2573162165

Gene: COL7A1 HGNC NCBI

ClinVar RCV:

RCV002249009

ClinVar Variation:

1685282

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Arg2063Gly	CA352662690 NM_000094.4:c.6187C>G