ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916057175
Gene: COL12A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
542484
ClinVar RCV Id:
RCV000652912
RCV001592828
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542376.2:p.Arg699Cys
CA3893080
NM_080645.3:c.2095C>T