ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830160176
Gene: COL11A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449808
ClinVar RCV Id:
RCV000523171
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542412.2:p.Leu1632Met
CA363615494
NM_080681.3:c.4894C>A