ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645454047
Gene: COL1A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000408630
ClinVar Variation:
369668
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000080.2:p.Gly838Ser
CA10654759
NM_000089.4:c.2512G>A