ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828938447
Gene: FBLN5
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000303754
RCV000361075
RCV000611423
RCV001555554
RCV002522340
ClinVar Variation:
314881
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371090.1:p.Val19Ala
CA7312906
NM_001384161.1:c.56T>C