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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:
PA2826464010
Gene: MSH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142169
ClinVar RCV Id:
RCV000131137
RCV000464371
RCV000481281
RCV003447501
RCV003998086
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245210.1:p.His358Tyr
CA017712
NM_001258281.1:c.1072C>T