Canonical Allele Identifier: PA2741811623
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2739908
ClinVar RCV Id: RCV003555644

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Pro2092Ser
CA73976973
NM_000094.4:c.6274C>T