ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830128690
Gene: COL11A2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000521843
RCV000678343
RCV003960237
ClinVar Variation:
451783
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542410.2:p.Leu196Pro
CA3751631
NM_080679.3:c.587T>C