Canonical Allele Identifier: PA127204
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17455
ClinVar RCV Id: RCV000019006

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly2073Val
CA127202
NM_000094.4:c.6218G>T