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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:
CA631362347
Gene: ELAVL1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1210696621
gnomAD v2:
19-8469706-A-AAG
gnomAD v3:
19-8404822-A-AAG
gnomAD v4:
19-8404822-A-AAG
MyVariant Identifiers:
chr19:g.8469706_8469707insAG (hg19)
chr19:g.8404822_8404823insAG (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.8404822_8404823insAG , CM000681.2:g.8404822_8404823insAG
GRCh38
NC_000019.9:g.8469706_8469707insAG , CM000681.1:g.8469706_8469707insAG
GRCh37
NC_000019.8:g.8375706_8375707insAG
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000351593.9:c.-88+40183_-88+40184insCT
ENSP00000264073.6:n.-88+40183_-88+40184insCT
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