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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:
PA2827113276
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1786112
ClinVar RCV Id:
RCV002417489
RCV003098626
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308934.1:p.Asp569Tyr
CA366737979
NM_001322005.2:c.1705G>T