ClinGen Allele Registry
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Canonical Allele Identifier:
PA131191
Gene: FBN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
51526
ClinVar RCV:
RCV000035195
RCV000515216
RCV000536927
RCV000663715
RCV000770669
RCV001119299
RCV001119300
RCV001119301
RCV001121319
RCV001121320
RCV001711363
ClinVar Variation:
42356
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Val1436Met
CA014927
NM_000138.5:c.4306G>A