ClinGen Allele Registry
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Canonical Allele Identifier:
PA260339
Gene: COL1A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000029590
RCV000412879
RCV001249446
RCV002228062
ClinVar Variation:
35934
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000080.2:p.Arg432Gln
CA260337
NM_000089.4:c.1295G>A