Canonical Allele Identifier: PA099493
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17437
ClinVar RCV Id: RCV000018987

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly1519Asp
CA257942
NM_000094.4:c.4556G>A