ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830159140
Gene: COL11A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
286092
ClinVar RCV Id:
RCV000296836
RCV001156809
RCV001156810
RCV001156808
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542412.2:p.Glu681Gly
CA3750958
NM_080681.3:c.2042A>G