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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:
PA2827105460
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2087190
ClinVar RCV Id:
RCV003009438
RCV004068511
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308933.1:p.Pro241Leu
CA366742749
NM_001322004.2:c.722C>T