ClinGen Allele Registry
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Canonical Allele Identifier:
PA916057057
Gene: COL12A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
475869
ClinVar RCV Id:
RCV000531413
RCV001420886
RCV002466535
RCV004024346
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542376.2:p.Asn374Ser
CA3893401
NM_080645.3:c.1121A>G