ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828938381
Gene: FBLN5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2784123
ClinVar RCV Id:
RCV003660181
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371089.1:p.Pro339Ser
CA7312635
NM_001384160.1:c.1015C>T