ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830097492
Gene: COL2A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
308926
ClinVar RCV Id:
RCV000312447
RCV000349004
RCV001764277
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149162.2:p.Val431Ile
CA6535468
NM_033150.3:c.1291G>A