Canonical Allele Identifier: PA645510090
Gene: COL2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 439507
ClinVar RCV Id: RCV000507036
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001835.3:p.Gly1053Arg
CA384540508
NM_001844.5:c.3157G>C
CA384540509
NM_001844.5:c.3157G>A