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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:
PA891858128
Gene: NEXMIF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
566167
ClinVar RCV Id:
RCV001319991
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001008537.1:p.Gln1218Arg
CA331301712
NM_001008537.3:c.3653A>G