Canonical Allele Identifier: PA645380943
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 345831
ClinVar RCV Id: RCV000361785 RCV001496298
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Thr1909Met
CA2379369
NM_000094.4:c.5726C>T