ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913196566
Gene: COL2A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
594729
ClinVar RCV Id:
RCV000730088
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001835.3:p.Ala215Glu
CA6535862
NM_001844.5:c.644C>A