ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916057015
Gene: COL12A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
452137
ClinVar RCV Id:
RCV000522585
RCV001040866
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542376.2:p.His92Leu
CA3893627
NM_080645.3:c.275A>T