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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:
PA2826336146
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2201140
ClinVar RCV Id:
RCV002644315
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001230695.2:p.Glu489Lys
CA340173760
NM_001243766.2:c.1465G>A