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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:
PA2741991160
Gene: C19orf12
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2585400
ClinVar RCV Id:
RCV003338016
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_113636.2:p.Phe40Val
CA405145452
NM_031448.6:c.118T>G