Canonical Allele Identifier: PA099796
Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17438
ClinVar RCV Id: RCV000018988 RCV000414315 RCV001192885 RCV001352763 RCV003924843
ClinVar Variation Id: 1458605
ClinVar RCV Id: RCV001956461
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000085.1:p.Gly2043Arg
CA257944
NM_000094.4:c.6127G>A
CA352663071
NM_000094.4:c.6127G>C