Canonical Allele Identifier: PA915956681
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 761882
ClinVar RCV Id: RCV000939967 RCV001278921
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Glu2473Lys
CA2378512
NM_000094.4:c.7417G>A