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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:
CA32418530
Gene:
Linked Data
ClinVar Variation Id:
1288807
ClinVar RCV Id:
RCV001709254
dbSNP Id:
rs9332483
gnomAD v2:
1-169556045-C-G
gnomAD v3:
1-169586807-C-G
gnomAD v4:
1-169586807-C-G
MyVariant Identifiers:
chr1:g.169556045C>G (hg19)
chr1:g.169586807C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.169586807C>G , CM000663.2:g.169586807C>G
GRCh38
NC_000001.10:g.169556045C>G , CM000663.1:g.169556045C>G
GRCh37
NC_000001.9:g.167822669C>G
NCBI36
NG_011806.1:g.4725G>C , LRG_553:g.4725G>C
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