ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830099054
Gene: COL2A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
308905
ClinVar RCV Id:
RCV000315540
RCV000354121
RCV001582948
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149162.2:p.Asn1348Ser
CA6534514
NM_033150.3:c.4043A>G