Canonical Allele Identifier: PA2580106698
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1983700
ClinVar RCV Id: RCV002770400

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Pro1995His
CA352664159
NM_000094.4:c.5984C>A