Canonical Allele Identifier: PA2573162145
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1362513
ClinVar RCV Id: RCV001932340

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Pro1906Ala
CA352667072
NM_000094.4:c.5716C>G