Canonical Allele Identifier: PA2499228283
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1117769
ClinVar RCV Id: RCV001446658 RCV003346563
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Glu1986Lys
CA2379238
NM_000094.4:c.5956G>A