Canonical Allele Identifier: PA645380931
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 345835

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Glu1858Lys
CA2379428
NM_000094.4:c.5572G>A