Allele Registry

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Canonical Allele Identifier: PA1139749189

Gene: COL18A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 447120

ClinVar RCV Id: RCV000517971 RCV001514518 RCV001139523

ClinVar Variation Id: 447121

ClinVar RCV Id: RCV000516207 RCV001520920 RCV004553122 RCV001139524

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_569711.2:p.Gly1343Arg	CA10067464 NM_130444.2:c.4027G>C CA10067465 NM_130444.2:c.4027G>A