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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:
PA2580263421
Gene: MAP2K1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1723651
ClinVar RCV Id:
RCV002308925
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002746.1:p.Leu42Arg
CA392929050
NM_002755.4:c.125T>G