Canonical Allele Identifier: PA1139698242
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 991502

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Pro1822Leu
CA2379491
NM_000094.4:c.5465C>T