ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658669020
Gene: COL1A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002231024
RCV002244998
ClinVar Variation:
456844
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000080.2:p.Gly262Arg
CA368220513
NM_000089.4:c.784G>C