ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658817856
Gene: COL12A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
522739
ClinVar RCV Id:
RCV000625896
RCV003767834
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004361.3:p.Ile587Thr
CA364768673
NM_004370.6:c.1760T>C