Canonical Allele Identifier: PA2580106679
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2186209
ClinVar RCV Id: RCV002606463

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Pro1892Leu
CA2379392
NM_000094.4:c.5675C>T