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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:
PA2827128836
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
411076
ClinVar RCV Id:
RCV000472222
RCV000574931
RCV004001882
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308940.1:p.Leu143Pro
CA043156
NM_001322011.2:c.428T>C