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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:
PA915996762
Gene: GRIN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
424537
ClinVar RCV Id:
RCV000486169
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001172020.1:p.Ala673Val
CA16618811
NM_001185091.2:c.2018C>T