ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658691666
Gene: FBN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
495603
ClinVar RCV Id:
RCV000590567
RCV000989325
RCV001065647
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Asn1341Ser
CA269520550
NM_000138.5:c.4022A>G