ClinGen Allele Registry
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Canonical Allele Identifier:
PA323304
Gene: FBN2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
209641
ClinVar RCV:
RCV000198778
RCV000796322
ClinVar Variation:
213432
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Asp2893Val
CA323303
NM_001999.4:c.8678A>T