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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:
PA113507
Gene: PHF6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11065
ClinVar RCV Id:
RCV000011814
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001015877.1:p.Lys234Glu
CA121322
NM_001015877.2:c.700A>G