ClinGen Allele Registry
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Canonical Allele Identifier:
PA645464727
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
263934
ClinVar RCV Id:
RCV000659607
RCV001315396
RCV002310916
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Ala926Asp
CA10587613
NM_001999.4:c.2777C>A