ClinGen Allele Registry
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Canonical Allele Identifier:
PA645421307
Gene: COL11A2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000217677
RCV000293819
RCV000348697
RCV000387942
RCV000393362
RCV000490461
RCV001510421
RCV002277571
RCV003947688
ClinVar Variation:
225318
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542411.2:p.Gly230Trp
CA3751596
NM_080680.3:c.688G>T