ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829344795
Gene: COL2A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1003699
ClinVar RCV Id:
RCV001300288
RCV001332047
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001835.3:p.Val1054Ile
CA236521162
NM_001844.5:c.3160G>A