ClinGen Allele Registry
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Canonical Allele Identifier:
PA645451153
Gene: COL12A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
415064
ClinVar RCV:
RCV000489488
RCV000803721
ClinVar Variation:
426164
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004361.3:p.Arg1742Cys
CA3893225
NM_004370.6:c.5224C>T