Canonical Allele Identifier: PA658817919
Gene: COL12A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 542511
ClinVar RCV Id: RCV000652941 RCV002251492 RCV002534187
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004361.3:p.Arg2807His
CA3892269
NM_004370.6:c.8420G>A