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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:
PA2827119029
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1492854
ClinVar RCV Id:
RCV001981285
RCV002407258
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308936.1:p.Lys504Gln
CA366739697
NM_001322007.2:c.1510A>C