ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645416405
Gene: COL2A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
290774
ClinVar RCV Id:
RCV000489443
RCV000622408
RCV003987496
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001835.3:p.Gly546Ser
CA10606903
NM_001844.5:c.1636G>A