ClinGen Allele Registry
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Canonical Allele Identifier:
PA658812615
Gene: FBN2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
521044
ClinVar RCV:
RCV000633583
RCV000659606
RCV001554961
ClinVar Variation:
528399
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Ile853Val
CA3395499
NM_001999.4:c.2557A>G