Canonical Allele Identifier: PA2580106719
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1676653
ClinVar RCV Id: RCV002277089
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly2079Lys
CA2580069973
NM_000094.4:c.6235_6236delinsAA