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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:
PA916026024
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188287
ClinVar RCV Id:
RCV000168273
RCV000486825
RCV000574365
RCV003468829
RCV003995619
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308943.1:p.Lys610Glu
CA010309
NM_001322014.1:c.1828A>G