ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830130930
Gene: COL11A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
391128
ClinVar RCV Id:
RCV000436866
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542410.2:p.Arg1588Trp
CA3749909
NM_080679.3:c.4762C>T