ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA304383
Gene: FBN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
200191
ClinVar RCV Id:
RCV000181698
RCV000768213
RCV000824568
RCV000659564
RCV001170531
RCV002287382
RCV004528957
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Glu2130Lys
CA016399
NM_000138.5:c.6388G>A