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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:
PA2830387851
Gene: TAFAZZIN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1062906
ClinVar RCV Id:
RCV001372676
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_851830.1:p.Arg154His
CA10562386
NM_181313.4:c.461G>A