ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA247359
Gene: COL11A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198609
ClinVar RCV Id:
RCV000223442
RCV000678342
RCV000764647
RCV000724260
RCV001253705
RCV002277425
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542411.2:p.Gly297Ser
CA247358
NM_080680.3:c.889G>A