ClinGen Allele Registry
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Canonical Allele Identifier:
PA645464507
Gene: FBN2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000488222
RCV000795229
RCV002279252
RCV002413344
ClinVar Variation:
425354
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Asn268Ser
CA3396004
NM_001999.4:c.803A>G