ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830125260
Gene: COL12A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3066370
ClinVar RCV Id:
RCV003991374
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542376.2:p.Thr1576Lys
CA364740541
NM_080645.3:c.4727C>A