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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:
CA631362345
Gene: ELAVL1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1281404497
gnomAD v2:
19-8469698-AC-A
gnomAD v3:
19-8404814-AC-A
gnomAD v4:
19-8404814-AC-A
MyVariant Identifiers:
chr19:g.8469699del (hg19)
chr19:g.8404815del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.8404815del , CM000681.2:g.8404815del
GRCh38
NC_000019.9:g.8469699del , CM000681.1:g.8469699del
GRCh37
NC_000019.8:g.8375699del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000351593.9:c.-88+40191del
ENSP00000264073.6:n.-88+40191del
Search 100 bp 5'
Search 100 bp 3'