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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:
CA26899182
Gene:
Linked Data
dbSNP Id:
rs546157044
gnomAD v3:
1-94564031-TTTTA-T
gnomAD v4:
1-94564031-TTTTA-T
MyVariant Identifiers:
chr1:g.95029588_95029591del (hg19)
chr1:g.94564032_94564035del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.94564034_94564037del , CM000663.2:g.94564034_94564037del
GRCh38
NC_000001.10:g.95029590_95029593del , CM000663.1:g.95029590_95029593del
GRCh37
NC_000001.9:g.94802178_94802181del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001738161.1:n.461+421_461+424del
Search 100 bp 5'
Search 100 bp 3'