Canonical Allele Identifier: PA645380577
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373954

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Arg481His
CA2381209
NM_000094.4:c.1442G>A