ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828938245
Gene: FBLN5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
218360
ClinVar RCV Id:
RCV000202603
RCV000405354
RCV003917823
RCV000584853
RCV001843304
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371089.1:p.Val126Met
CA213354
NM_001384160.1:c.376G>A