ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830129748
Gene: COL11A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
356397
ClinVar RCV Id:
RCV000274611
RCV000309896
RCV000331935
RCV000366859
RCV001850901
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542410.2:p.Val805Ala
CA3750754
NM_080679.3:c.2414T>C