ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830160085
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_542412.2:p.Arg1530Met
CA363617432
NM_080681.3:c.4589G>T