ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580502954
Gene: COL12A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542376.2:p.Ser230Cys
CA3893519
NM_080645.3:c.689C>G