Canonical Allele Identifier: PA2830125367
Gene: COL12A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 475900
ClinVar RCV Id: RCV000555051 RCV001561722 RCV003905470
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542376.2:p.Pro1638Leu
CA3892294
NM_080645.3:c.4913C>T