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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:
PA2830114507
Gene: HK1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
372693
ClinVar RCV Id:
RCV000413860
RCV000763213
RCV000850129
RCV001266327
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_277031.1:p.Thr456Met
CA16042708
NM_033496.3:c.1367C>T