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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:
PA2827105492
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
818389
ClinVar RCV Id:
RCV001064908
RCV001009940
RCV004004479
RCV003478606
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308933.1:p.Asp244Val
CA153230500
NM_001322004.2:c.731A>T