ClinGen Allele Registry
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Canonical Allele Identifier:
PA131177
Gene: FBN1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
44731
ClinVar RCV:
RCV000029728
RCV000035176
RCV000631909
RCV001119598
RCV001119599
RCV001119600
RCV001119601
RCV001121593
RCV002477020
ClinVar Variation:
36067
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.His1187Arg
CA014274
NM_000138.5:c.3560A>G