ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573238399
Gene: COL12A1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004361.3:p.Glu129Lys
CA141002999
NM_004370.6:c.385G>A