ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573061487
Gene: FBN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1333821
ClinVar RCV Id:
RCV001809036
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Gly1571Asp
CA392352892
NM_000138.5:c.4712G>A