Canonical Allele Identifier: PA645381021
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 379455
ClinVar RCV Id: RCV000436809

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly2037Arg
CA16604480
NM_000094.4:c.6109G>A
CA352663171
NM_000094.4:c.6109G>C