Allele Registry

SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
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Canonical Allele Identifier: PA645381090

Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372344

ClinVar RCV Id: RCV000414533

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Gly2088Arg	CA2379133 NM_000094.4:c.6262G>A CA352662157 NM_000094.4:c.6262G>C