ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499296016
Gene: COL11A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1064998
ClinVar RCV Id:
RCV001375282
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542411.2:p.Arg1616Met
CA363617432
NM_080680.3:c.4847G>T