Canonical Allele Identifier: PA645380598
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 345874
ClinVar RCV Id: RCV000373422 RCV001278983 RCV002520151
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Val499Met
CA2381200
NM_000094.4:c.1495G>A