Allele Registry

Canonical Allele Identifier: PA645380551

Gene: COL7A1 HGNC NCBI

ClinVar RCV:

RCV000294619

RCV000954397

RCV001273602

RCV002487521

RCV003932400

ClinVar Variation:

345881

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Pro268Ser	CA2381445 NM_000094.4:c.802C>T