Canonical Allele Identifier: PA2573162204
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1523819
ClinVar RCV Id: RCV002049001

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly2304Arg
CA352652967
NM_000094.4:c.6910G>C
CA352652969
NM_000094.4:c.6910G>A