ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658660309
Gene: FBN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
451847
ClinVar RCV Id:
RCV000523557
RCV001066350
RCV004003632
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Lys278Glu
CA059948
NM_000138.5:c.832A>G