ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741882313
Gene: FBLN5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2723719
ClinVar RCV Id:
RCV003561455
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371087.1:p.Arg372Cys
CA390641175
NM_001384158.1:c.1114C>T