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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:
PA2825044591
Gene: ENG
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1056057
ClinVar RCV Id:
RCV001364828
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000109.1:p.Thr343Ala
CA374981694
NM_000118.3:c.1027A>G