Canonical Allele Identifier: PA2830125462
Gene: COL12A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 475905
ClinVar RCV Id: RCV000542800 RCV001584355 RCV002527917 RCV003905471
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542376.2:p.His1716Arg
CA3892185
NM_080645.3:c.5147A>G