ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916016314
Gene: COL12A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004361.3:p.Thr388Met
CA3894255
NM_004370.6:c.1163C>T