ClinGen Allele Registry
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Canonical Allele Identifier:
PA645453956
Gene: COL1A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000408644
ClinVar Variation:
369727
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000080.2:p.Gly517Asp
CA10654776
NM_000089.4:c.1550G>A