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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:
PA645451687
Gene: EGF
HGNC
NCBI
Linked Data
ClinVar Variation Id:
347225
ClinVar RCV Id:
RCV000271515
RCV000678686
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001954.2:p.Ser16Thr
CA3043329
NM_001963.6:c.47G>C