ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA320908
Gene: FBN2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000196494
RCV001853141
RCV004020357
ClinVar Variation:
213265
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Ala68Ser
CA320907
NM_001999.4:c.202G>T