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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:
PA658825387
Gene: AGXT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
551383
ClinVar RCV Id:
RCV000666432
RCV002530684
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000021.1:p.Glu87_Leu90del
CA658821244
NM_000030.3:c.260_271del