ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573163268
Gene: FBN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1416068
ClinVar RCV Id:
RCV001947809
RCV002491886
RCV004010877
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Thr1496Met
CA053175
NM_000138.5:c.4487C>T