ClinGen Allele Registry
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Canonical Allele Identifier:
PA645464443
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
264204
ClinVar RCV Id:
RCV000493996
RCV002311101
RCV001323582
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Asp121Gly
CA3396130
NM_001999.4:c.362A>G