ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573077346
Gene: FBLN5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
218358
ClinVar RCV Id:
RCV000756132
RCV003447124
RCV001843302
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371087.1:p.Arg414Cys
CA248593
NM_001384158.1:c.1240C>T