ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499259179
Gene: COL2A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1183965
ClinVar RCV Id:
RCV001541896
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001835.3:p.Ser1221Phe
CA384536996
NM_001844.5:c.3662C>T