ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645416740
Gene: COL2A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
308906
ClinVar RCV Id:
RCV000272004
RCV000357617
RCV001850629
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001835.3:p.Val1373Ile
CA6534531
NM_001844.5:c.4117G>A