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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:
PA2573099638
Gene: EVC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1315092
ClinVar RCV Id:
RCV001773286
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_714928.1:p.Leu28Met
CA356156483
NM_153717.3:c.82C>A