ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645416401
Gene: COL2A1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000278404
RCV000322902
RCV000373035
ClinVar Variation:
284988
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001835.3:p.Asn545Ser
CA6535435
NM_001844.5:c.1634A>G