Canonical Allele Identifier: PA2580106687
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2144654
ClinVar RCV Id: RCV003071043

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Arg1944Gln
CA2379289
NM_000094.4:c.5831G>A