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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:
CA237178021
Gene:
Linked Data
dbSNP Id:
rs999688289
gnomAD v4:
12-52059517-T-G
MyVariant Identifiers:
chr12:g.52453301T>G (hg19)
chr12:g.52059517T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.52059517T>G , CM000674.2:g.52059517T>G
GRCh38
NC_000012.11:g.52453301T>G , CM000674.1:g.52453301T>G
GRCh37
NC_000012.10:g.50739568T>G
NCBI36
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