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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:
PA2573093133
Gene: POMGNT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4000
ClinVar RCV Id:
RCV000004207
RCV000411094
RCV000798530
RCV001091843
RCV002476922
RCV002512742
RCV003460424
RCV004532285
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060209.4:p.Cys490Tyr
CA116564
NM_017739.4:c.1469G>A