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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:
PA2741968167
Gene: HDAC8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3024300
ClinVar RCV Id:
RCV003883346
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060956.1:p.Arg55Met
CA413576318
NM_018486.2:c.164G>T