ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645403771
Gene: FBN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237091
ClinVar RCV Id:
RCV000229641
RCV001843947
RCV002327102
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Cys145Tyr
CA10583255
NM_000138.5:c.434G>A