Allele Registry

Canonical Allele Identifier: PA099443

Gene: COL7A1 HGNC NCBI

ClinVar RCV:

RCV000019007

RCV000413807

RCV001352769

ClinVar Variation:

17456

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Arg2063Trp	CA257956 NM_000094.4:c.6187C>T