Canonical Allele Identifier: PA915956630
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 709570

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Pro1850Ser
CA2379438
NM_000094.4:c.5548C>T