Canonical Allele Identifier: PA2741811676
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2867227
ClinVar RCV Id: RCV003700623

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Leu2576Phe
CA352643026
NM_000094.4:c.7728G>T
CA352643030
NM_000094.4:c.7728G>C