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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:
PA915975701
Gene: GRIN2A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
129189
ClinVar RCV Id:
RCV000117178
RCV000711852
RCV000989528
RCV000656052
RCV002313887
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001127880.1:p.Phe183Ile
CA153033
NM_001134408.2:c.547T>A