ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741888185
Gene: COL2A1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV003845896
ClinVar Variation:
2984753
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001835.3:p.Thr1439Ala
CA384533393
NM_001844.5:c.4315A>G