ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645451142
Gene: COL12A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
391580
ClinVar RCV Id:
RCV000431517
RCV001223141
RCV002522639
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004361.3:p.Gln286Glu
CA3894318
NM_004370.6:c.856C>G