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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
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Canonical Allele Identifier:
CA2321389895
Gene: ELAVL1
HGNC
NCBI
RAB11B-AS1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.8376874_8376875delinsAC , CM000681.2:g.8376874_8376875delinsAC
GRCh38
NC_000019.9:g.8441758_8441759delinsAC , CM000681.1:g.8441758_8441759delinsAC
GRCh37
NC_000019.8:g.8347758_8347759delinsAC
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000351593.9:c.-88+68131_-88+68132delinsGT
(ELAVL1)
ENSP00000264073.6:n.-88+68131_-88+68132de...
NR_038237.1:n.789+87_789+88delinsGT
(RAB11B-AS1)
Search 100 bp 5'
Search 100 bp 3'