Canonical Allele Identifier: PA1139698205
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 899655

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Arg1696Cys
CA2379684
NM_000094.4:c.5086C>T