Canonical Allele Identifier: PA645380824
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 432134
ClinVar RCV Id: RCV000497857

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly1534Arg
CA352687668
NM_000094.4:c.4600G>C
CA352687670
NM_000094.4:c.4600G>A