ClinGen Allele Registry
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Canonical Allele Identifier:
PA645454110
Gene: COL1A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
265335
ClinVar RCV:
RCV000723559
RCV000764736
RCV001162767
RCV001162768
RCV002229738
RCV002278258
RCV002446511
ClinVar Variation:
281098
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000080.2:p.Pro1016His
CA4347649
NM_000089.4:c.3047C>A