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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:
PA2826883921
Gene: TAFAZZIN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
653322
ClinVar RCV Id:
RCV000809073
RCV001091835
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001290394.1:p.Arg112His
CA415180774
NM_001303465.2:c.335G>A