ClinGen Allele Registry
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Canonical Allele Identifier:
PA658669080
Gene: COL1A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
457076
ClinVar RCV:
RCV002231229
ClinVar Variation:
456809
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000080.2:p.Gly505Ala
CA368222011
NM_000089.4:c.1514G>C