ClinGen Allele Registry
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Canonical Allele Identifier:
PA260350
Gene: COL1A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
44603
ClinVar RCV:
RCV000029595
RCV001781322
RCV002513242
ClinVar Variation:
35939
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000080.2:p.Gly664Asp
CA260348
NM_000089.4:c.1991G>A