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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:
CA798374957
Gene:
Linked Data
dbSNP Id:
rs1162853429
gnomAD v3:
4-74553967-GA-G
gnomAD v4:
4-74553967-GA-G
MyVariant Identifiers:
chr4:g.74553968del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.74553974del , CM000666.2:g.74553974del
GRCh38
NC_000004.11:g.75419691del , CM000666.1:g.75419691del
GRCh37
NC_000004.10:g.75638555del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001741513.1:n.167-1136del
Search 100 bp 5'
Search 100 bp 3'