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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:
PA891864770
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
231764
ClinVar RCV Id:
RCV000216140
RCV001322223
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000526.2:p.Lys577Gln
CA10578663
NM_000535.7:c.1729A>C