ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645416338
Gene: COL2A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000483756
ClinVar Variation:
423267
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001835.3:p.Gly444Ser
CA16619528
NM_001844.5:c.1330G>A