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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:
PA2825783977
Gene: AHI1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
512616
ClinVar RCV Id:
RCV000608290
RCV000861193
RCV001157000
RCV003980163
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001128302.1:p.Asp1179Tyr
CA4011960
NM_001134830.2:c.3535G>T