ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830130795
Gene: COL11A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1357906
ClinVar RCV Id:
RCV001863943
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542410.2:p.Ser1520Ala
CA363616607
NM_080679.3:c.4558T>G