ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658669062
Gene: COL1A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
456803
ClinVar RCV Id:
RCV000757107
RCV003338649
RCV002231006
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000080.2:p.Val416Ile
CA4346961
NM_000089.4:c.1246G>A