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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:
CA786417433
Gene:
Linked Data
dbSNP Id:
rs1291795987
gnomAD v3:
4-122759979-C-G
gnomAD v4:
4-122759979-C-G
MyVariant Identifiers:
chr4:g.123681134C>G (hg19)
chr4:g.122759979C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.122759979C>G , CM000666.2:g.122759979C>G
GRCh38
NC_000004.11:g.123681134C>G , CM000666.1:g.123681134C>G
GRCh37
NC_000004.10:g.123900584C>G
NCBI36
Search 100 bp 5'
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