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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:
PA2827120586
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
185339
ClinVar RCV Id:
RCV000164743
RCV000206423
RCV000410095
RCV000486892
RCV000761045
RCV000781746
RCV001358129
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308937.1:p.Ala619Val
CA010984
NM_001322008.2:c.1856C>T