ClinGen Allele Registry
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Canonical Allele Identifier:
PA658691924
Gene: FBN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
495617
ClinVar RCV Id:
RCV000588782
RCV000813638
RCV003318603
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Cys1672Gly
CA269548272
NM_000138.5:c.5014T>G