Canonical Allele Identifier: PA2580106722
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2142704
ClinVar RCV Id: RCV003062679
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Pro2089Leu
CA2379128
NM_000094.4:c.6266C>T