Allele Registry

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Canonical Allele Identifier: PA099894

Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1212890

ClinVar RCV Id: RCV001586537 RCV002276821 RCV003900816

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Gly2079Arg	CA352662333 NM_000094.4:c.6235G>C CA352662335 NM_000094.4:c.6235G>A