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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:
CA555234989
Gene:
Linked Data
dbSNP Id:
rs1188748498
gnomAD v2:
4-139430114-CCG-C
gnomAD v3:
4-138508960-CCG-C
gnomAD v4:
4-138508960-CCG-C
MyVariant Identifiers:
chr4:g.139430115_139430116del (hg19)
chr4:g.138508961_138508962del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.138508961_138508962del , CM000666.2:g.138508961_138508962del
GRCh38
NC_000004.11:g.139430115_139430116del , CM000666.1:g.139430115_139430116del
GRCh37
NC_000004.10:g.139649565_139649566del
NCBI36
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