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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:
PA107436
Gene: MVK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11934
ClinVar RCV Id:
RCV000012712
RCV000083890
RCV000414603
RCV000697433
RCV002262565
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000422.1:p.Val310Met
CA121787
NM_000431.4:c.928G>A