ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830129808
Gene: COL11A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
356396
ClinVar RCV Id:
RCV000282164
RCV000283442
RCV000337227
RCV000391260
RCV001770281
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542410.2:p.Pro843Ser
CA3750711
NM_080679.3:c.2527C>T