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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:
PA658831014
Gene: EVC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
553957
ClinVar RCV Id:
RCV000669503
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_714928.1:p.Leu27_Ala31del
CA658821189
NM_153717.3:c.79_93del