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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:
PA2826465016
Gene: MSH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
568085
ClinVar RCV Id:
RCV000708837
RCV000688328
RCV001176636
RCV003129996
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245210.1:p.Pro604Ser
CA346729079
NM_001258281.1:c.1810C>T