ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645406379
Gene: FBN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
264272
ClinVar RCV Id:
RCV001374807
RCV000540250
RCV000659583
RCV002311119
RCV000763353
RCV003441830
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Glu2610Lys
CA10587789
NM_000138.5:c.7828G>A