ClinGen Allele Registry
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Canonical Allele Identifier:
PA658800579
Gene: FBN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
528983
ClinVar RCV:
RCV000632029
RCV000663531
RCV003162803
ClinVar Variation:
527217
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Cys781Tyr
CA392335455
NM_000138.5:c.2342G>A