Canonical Allele Identifier: PA2830099085
Gene: COL2A1 HGNC NCBI
ClinVar RCV:
RCV003845896
ClinVar Variation:
2984753
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_149162.2:p.Thr1370Ala
CA384533393
NM_033150.3:c.4108A>G