Canonical Allele Identifier: PA645381169
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 419501
ClinVar RCV Id: RCV000486736
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly2281Ala
CA16617982
NM_000094.4:c.6842G>C