Canonical Allele Identifier: PA1139698148
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 902472

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Glu1521Gln
CA2379959
NM_000094.4:c.4561G>C