Canonical Allele Identifier: PA2499228366
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1047974
ClinVar RCV Id: RCV001352753

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly503Arg
CA352733671
NM_000094.4:c.1507G>C
CA352733678
NM_000094.4:c.1507G>A