Canonical Allele Identifier: PA1139698398
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 982058
ClinVar RCV Id: RCV001261558

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly2590Arg
CA352642247
NM_000094.4:c.7768G>C