ClinGen Allele Registry
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Canonical Allele Identifier:
PA645451615
Gene: COL12A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
259356
ClinVar RCV Id:
RCV000248918
RCV000488209
RCV001082633
RCV000987739
RCV002519921
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004361.3:p.Arg3028His
CA3892023
NM_004370.6:c.9083G>A