ClinGen Allele Registry
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Canonical Allele Identifier:
PA351840
Gene: FBN2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000208190
ClinVar Variation:
222629
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Asp1115Val
CA351839
NM_001999.4:c.3344A>T