Allele Registry

Canonical Allele Identifier: PA1139698102

Gene: COL7A1 HGNC NCBI

ClinVar Allele:

931989

ClinVar RCV:

RCV001206925

RCV002225127

ClinVar Variation:

937822

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Gly1347Trp	CA2380261 NM_000094.4:c.4039G>T