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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:
PA2827158699
Gene: HK1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1059317
ClinVar RCV Id:
RCV001368571
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001309293.1:p.Ala387Val
CA5532517
NM_001322364.2:c.1160C>T