ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645405155
Gene: FBN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
372659
ClinVar RCV Id:
RCV000414270
RCV001208540
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Asn1422Ser
CA16042874
NM_000138.5:c.4265A>G