Canonical Allele Identifier: PA2580106665
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1981605
ClinVar RCV Id: RCV002751563

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly1851Arg
CA352670936
NM_000094.4:c.5551G>C
CA352670938
NM_000094.4:c.5551G>A