Allele Registry

Canonical Allele Identifier: PA099774

Gene: COL7A1 HGNC NCBI

ClinVar RCV:

RCV000018970

ClinVar Variation:

17424

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Gly2040Ser	CA257935 NM_000094.4:c.6118G>A