Allele Registry

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Canonical Allele Identifier: PA2573162204

Gene: COL7A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1523819

ClinVar RCV Id: RCV002049001

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000085.1:p.Gly2304Arg	CA352652967 NM_000094.4:c.6910G>C CA352652969 NM_000094.4:c.6910G>A