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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:
PA915959318
Gene: FBN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
642750
ClinVar RCV Id:
RCV000796267
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000129.3:p.Ala705Thr
CA392337863
NM_000138.5:c.2113G>A