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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:
PA2830059772
Gene: C19orf12
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2038455
ClinVar RCV Id:
RCV002894968
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_113636.2:p.Pro72Gln
CA405143257
NM_031448.6:c.215C>A