ClinGen Allele Registry
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Canonical Allele Identifier:
PA916057189
Gene: COL12A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
475878
ClinVar RCV Id:
RCV000536812
RCV001551411
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542376.2:p.Pro783Thr
CA3892989
NM_080645.3:c.2347C>A