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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:
PA916058129
Gene: TMEM127
HGNC
NCBI
Linked Data
ClinVar Variation Id:
824428
ClinVar RCV Id:
RCV001021524
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060319.1:p.Ala132Val
CA347653274
NM_017849.4:c.395C>T