ClinGen Allele Registry
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Canonical Allele Identifier:
PA658670896
Gene: COL12A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
443994
ClinVar RCV:
RCV000518879
RCV000802768
RCV002527638
ClinVar Variation:
452138
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004361.3:p.Arg1128Lys
CA3893741
NM_004370.6:c.3383G>A