ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658805186
Gene: COL12A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
522655
ClinVar RCV Id:
RCV000625794
RCV000652902
RCV002533144
RCV003162766
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_542376.2:p.Asn599Ser
CA3893172
NM_080645.3:c.1796A>G