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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:
PA2827124135
Gene: PMS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
135937
ClinVar RCV Id:
RCV000123078
RCV000131575
RCV000479914
RCV001824617
RCV001775084
RCV003149840
RCV003997415
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308938.1:p.Ala339Ser
CA009651
NM_001322009.2:c.1015G>T