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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:
PA2827131698
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411077
ClinVar RCV Id:
RCV000477635
RCV002418417
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308941.1:p.His390Tyr
CA046594
NM_001322012.1:c.1168C>T