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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:
PA916046161
Gene: GRIP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
402209
ClinVar RCV Id:
RCV000454347
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001353651.1:p.Ser433Ile
CA16609528
NM_001366722.1:c.1298G>T