Allele Registry

Canonical Allele Identifier: PA100199

Gene: COL7A1 HGNC NCBI

ClinVar RCV:

RCV000252599

RCV000366293

RCV000677326

RCV001519697

ClinVar Variation:

255103

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Pro595Leu	CA2381108 NM_000094.4:c.1784C>T