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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:
PA2827134848
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3076170
ClinVar RCV Id:
RCV004018487
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Asp55Asn
CA366744945
NM_001322014.1:c.163G>A