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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:
CA766293320
Gene:
Linked Data
dbSNP Id:
rs1417796069
gnomAD v3:
2-233595358-G-A
gnomAD v4:
2-233595358-G-A
MyVariant Identifiers:
chr2:g.234504004G>A (hg19)
chr2:g.233595358G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.233595358G>A , CM000664.2:g.233595358G>A
GRCh38
NC_000002.11:g.234504004G>A , CM000664.1:g.234504004G>A
GRCh37
NC_000002.10:g.234168743G>A
NCBI36
NG_002601.2:g.10615G>A
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