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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:
PA277463
Gene: AHI1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
210114
ClinVar RCV Id:
RCV000195247
RCV000504798
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128303.1:p.His696Arg
CA277462
NM_001134831.2:c.2087A>G