ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658670901
Gene: COL12A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450114
ClinVar RCV Id:
RCV000523224
RCV000821262
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004361.3:p.Arg1286His
CA3893597
NM_004370.6:c.3857G>A