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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:
PA2827119367
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
651602
ClinVar RCV Id:
RCV000807000
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308936.1:p.His595Pro
CA366737994
NM_001322007.2:c.1784A>C