ClinGen Allele Registry
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Canonical Allele Identifier:
PA2741887554
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2916991
ClinVar RCV Id:
RCV003642332
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Ser858Gly
CA3395495
NM_001999.4:c.2572A>G