ClinGen Allele Registry
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Canonical Allele Identifier:
PA645454150
Gene: COL1A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000284047
RCV000380433
RCV001861312
ClinVar Variation:
360975
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000080.2:p.Ser1295Pro
CA4347875
NM_000089.4:c.3883T>C