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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828937739
Gene: FBLN5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
218359
ClinVar RCV Id:
RCV000202614
RCV000521928
RCV001249315
RCV001121879
RCV001843303
RCV003447125
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001371087.1:p.Gly131Ser
CA213355
NM_001384158.1:c.391G>A