ClinGen Allele Registry
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Canonical Allele Identifier:
PA645454038
Gene: COL1A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
370014
ClinVar RCV:
RCV000420048
ClinVar Variation:
393287
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000080.2:p.Gly781Val
CA16605414
NM_000089.4:c.2342G>T