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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:
PA2827134216
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
945119
ClinVar RCV Id:
RCV001215677
RCV002429918
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308942.1:p.Ala534Glu
CA366737836
NM_001322013.1:c.1601C>A