Canonical Allele Identifier: PA645381059
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372343
ClinVar RCV Id: RCV000413184

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Glu2059Gly
CA16042528
NM_000094.4:c.6176A>G