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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:
PA2826775790
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1409099
ClinVar RCV Id:
RCV001930293
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001277058.2:p.Asp270His
CA21914449
NM_001290129.2:c.808G>C