Allele Registry

Canonical Allele Identifier: PA127198

Gene: COL7A1 HGNC NCBI

ClinVar RCV:

RCV000019002

RCV001352849

RCV001355300

ClinVar Variation:

17451

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Pro1699Leu	CA127196 NM_000094.4:c.5096C>T