ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830129514
Gene: COL11A2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000268237
RCV000303393
RCV000307051
RCV000360580
RCV002058604
ClinVar Variation:
356399
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542410.2:p.Arg699Cys
CA3750918
NM_080679.3:c.2095C>T