ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645453856
Gene: COL1A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
360952
ClinVar RCV Id:
RCV000337632
RCV000405013
RCV002229985
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000080.2:p.Ala351Thr
CA4346925
NM_000089.4:c.1051G>A