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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:
PA2827933118
Gene: PFKM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
255760
ClinVar RCV Id:
RCV000245226
RCV000322166
RCV000675434
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341673.1:p.Arg100Gln
CA6536961
NM_001354744.2:c.299G>A