ClinGen Allele Registry
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Canonical Allele Identifier:
PA658812587
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
523041
ClinVar RCV Id:
RCV000626246
RCV001195376
RCV002223891
RCV002420655
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Ser679Phe
CA3395669
NM_001999.4:c.2036C>T