ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830125172
Gene: COL12A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
259348
ClinVar RCV Id:
RCV000251433
RCV000541900
RCV001764233
RCV002252066
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542376.2:p.Val1469Ala
CA3892432
NM_080645.3:c.4406T>C