Canonical Allele Identifier: PA2573162119
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1500817
ClinVar RCV Id: RCV002042662

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Glu1535Asp
CA352687500
NM_000094.4:c.4605G>T
CA352687503
NM_000094.4:c.4605G>C