ClinGen Allele Registry
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Canonical Allele Identifier:
PA645454036
Gene: COL1A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
420022
ClinVar RCV Id:
RCV000481739
RCV002244949
RCV002279242
RCV003988847
RCV002230922
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000080.2:p.Gly772Ser
CA16618576
NM_000089.4:c.2314G>A