ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830125376
Gene: COL12A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
542511
ClinVar RCV Id:
RCV000652941
RCV002251492
RCV002534187
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542376.2:p.Arg1643His
CA3892269
NM_080645.3:c.4928G>A