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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:
PA2826866279
Gene: MVK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
97601
ClinVar RCV Id:
RCV000083853
RCV000217732
RCV000799676
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001288111.1:p.Val151Ala
CA149853
NM_001301182.1:c.452T>C