Allele Registry

Canonical Allele Identifier: PA645381317

Gene: COL7A1 HGNC NCBI

ClinVar Allele:

368612

ClinVar RCV:

RCV000422881

ClinVar Variation:

379696

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Gly2701Val	CA16604943 NM_000094.4:c.8102G>T