ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645416763
Gene: COL2A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000478499
ClinVar Variation:
423019
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001835.3:p.Ile1389del
CA16619524
NM_001844.5:c.4166_4168del