ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829535477
Gene: COL12A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004361.3:p.Val2063Ile
CA364730850
NM_004370.6:c.6187G>A