ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA322689
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
213407
ClinVar RCV Id:
RCV000529267
RCV000756151
RCV002321790
RCV002485301
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Val1368Met
CA322688
NM_001999.4:c.4102G>A