ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916057079
Gene: COL12A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542376.2:p.Lys458Glu
CA3893322
NM_080645.3:c.1372A>G