Allele Registry

Canonical Allele Identifier: PA099985

Gene: COL7A1 HGNC NCBI

ClinVar RCV:

RCV000018998

RCV000022473

RCV000408804

RCV000439658

RCV001352821

RCV004545732

ClinVar Variation:

17447

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Gly2287Arg	CA128519 NM_000094.4:c.6859G>A CA352653194 NM_000094.4:c.6859G>C