ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830160144
Gene: COL11A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1462244
ClinVar RCV Id:
RCV001985644
RCV003303510
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542412.2:p.Arg1581Ser
CA363616055
NM_080681.3:c.4741C>A