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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:
PA2825365301
Gene: ERAP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2688505
ClinVar RCV Id:
RCV003490399
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035548.1:p.Arg725Gln
CA3352013
NM_001040458.3:c.2174G>A