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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:
PA2826290470
Gene: AGER
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2582841
ClinVar RCV Id:
RCV003993689
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001193861.1:p.Gly68Ser
CA3738264
NM_001206932.2:c.202G>A