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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:
PA275656
Gene: AGXT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
204085
ClinVar RCV Id:
RCV000186291
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000021.1:p.His83Arg
CA275655
NM_000030.3:c.248A>G