ClinGen Allele Registry
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Canonical Allele Identifier:
PA645465008
Gene: FBN2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000244909
RCV000685075
RCV000765798
RCV001589297
ClinVar Variation:
263401
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Ser2026Phe
CA3394502
NM_001999.4:c.6077C>T