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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:
CA2321404169
Gene: ELAVL1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.8404814_8404815delinsAC , CM000681.2:g.8404814_8404815delinsAC
GRCh38
NC_000019.9:g.8469698_8469699delinsAC , CM000681.1:g.8469698_8469699delinsAC
GRCh37
NC_000019.8:g.8375698_8375699delinsAC
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000351593.9:c.-88+40191_-88+40192delinsGT
ENSP00000264073.6:n.-88+40191_-88+40192delinsGT
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