ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916057052
Gene: COL12A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449260
ClinVar RCV Id:
RCV000519676
RCV001857946
RCV003302754
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542376.2:p.Arg358Cys
CA3893407
NM_080645.3:c.1072C>T