ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830129552
Gene: COL11A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002122169
ClinVar Variation:
1592134
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542410.2:p.Ser724Leu
CA3750872
NM_080679.3:c.2171C>T