Canonical Allele Identifier: PA915956628
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 809482

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Pro1820Arg
CA2379492
NM_000094.4:c.5459C>G