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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:
PA2825007522
Gene: AGL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
578111
ClinVar RCV Id:
RCV000701029
RCV003156286
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000019.2:p.His1488Tyr
CA967446
NM_000028.2:c.4462C>T