ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573300326
Gene: COL2A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1412322
ClinVar RCV Id:
RCV001919066
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149162.2:p.Ala994Val
CA236521006
NM_033150.3:c.2981C>T