ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828937716
Gene: FBLN5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
314881
ClinVar RCV Id:
RCV000303754
RCV000361075
RCV000611423
RCV002522340
RCV001555554
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371087.1:p.Val116Ala
CA7312906
NM_001384158.1:c.347T>C