Canonical Allele Identifier: PA2829344791
Gene: COL2A1 HGNC NCBI
ClinVar RCV:
RCV004555526
ClinVar Variation:
3236332
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001835.3:p.Arg1048Ser
CA6534870
NM_001844.5:c.3144A>T
CA384540535
NM_001844.5:c.3144A>C