Canonical Allele Identifier: PA2580106723
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2070045
ClinVar RCV Id: RCV002966835
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Pro2092Leu
CA352662041
NM_000094.4:c.6275C>T