ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA358194
Gene: FBN2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000210681
RCV000489643
RCV001439397
ClinVar Variation:
225102
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001990.2:p.Thr2278Met
CA358193
NM_001999.4:c.6833C>T