ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645404678
Gene: FBN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
225356
ClinVar RCV Id:
RCV001844089
RCV000490387
RCV000777610
RCV001061450
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Ala1015Thr
CA049620
NM_000138.5:c.3043G>A