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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:
PA645378198
Gene: MSH6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
428359
ClinVar RCV Id:
RCV000491831
RCV001856941
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000170.1:p.Ala34Val
CA067035
NM_000179.3:c.101C>T