Allele Registry

Canonical Allele Identifier: PA099458

Gene: COL7A1 HGNC NCBI

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000019015

RCV000414882

RCV000498291

RCV000626608

RCV001199071

RCV001251179

RCV001352770

RCV002276566

RCV002496411

RCV003924844

ClinVar Variation:

17463

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Arg2069Cys	CA127208 NM_000094.4:c.6205C>T