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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:
CA762544652
Gene:
Linked Data
dbSNP Id:
rs1270312974
gnomAD v3:
2-192877504-GTA-G
gnomAD v4:
2-192877504-GTA-G
MyVariant Identifiers:
chr2:g.193742231_193742232del (hg19)
chr2:g.192877505_192877506del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.192877506_192877507del , CM000664.2:g.192877506_192877507del
GRCh38
NC_000002.11:g.193742232_193742233del , CM000664.1:g.193742232_193742233del
GRCh37
NC_000002.10:g.193450477_193450478del
NCBI36
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