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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:
PA891847215
Gene: FIG4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
572719
ClinVar RCV Id:
RCV000694170
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055660.1:p.Pro46Arg
CA365211511
NM_014845.6:c.137C>G