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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:
PA645382527
Gene: FLNA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11761
ClinVar RCV Id:
RCV000012527
RCV000414151
RCV002051782
RCV002228026
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001447.2:p.Ser1186Leu
CA256058
NM_001456.4:c.3557C>T