ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645416675
Gene: COL2A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001835.3:p.Pro1165Leu
CA6534720
NM_001844.5:c.3494C>T