ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA131171
Gene: FBN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
42334
ClinVar RCV Id:
RCV000035170
RCV000228084
RCV000266428
RCV000251557
RCV000279248
RCV000292691
RCV000375425
RCV000377620
RCV000337118
RCV001703450
RCV001775003
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Pro1141Leu
CA014098
NM_000138.5:c.3422C>T