Allele Registry

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Canonical Allele Identifier: PA2573060435

Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1342741

ClinVar RCV Id: RCV001840852

ClinVar Variation Id: 2094263

ClinVar RCV Id: RCV003010240

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly482Arg	CA291545442 NM_000088.4:c.1444G>A CA400217650 NM_000088.4:c.1444G>C