ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580503415
Gene: COL11A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2146227
ClinVar RCV Id:
RCV003074456
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542411.2:p.Thr1614Met
CA363617452
NM_080680.3:c.4841C>T