ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA257805
Gene: COL1A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
32321
ClinVar RCV:
RCV000018823
ClinVar Variation:
17282
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000080.2:p.Gly1090Asp
CA257803
NM_000089.4:c.3269G>A