ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828938492
Gene: FBLN5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371090.1:p.Val70Met
CA213354
NM_001384161.1:c.208G>A