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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:
CA529786693
Gene:
Linked Data
dbSNP Id:
rs1190897915
gnomAD v2:
1-228997727-GA-G
gnomAD v3:
1-228861980-GA-G
gnomAD v4:
1-228861980-GA-G
MyVariant Identifiers:
chr1:g.228997728del (hg19)
chr1:g.228861981del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.228861981del , CM000663.2:g.228861981del
GRCh38
NC_000001.10:g.228997728del , CM000663.1:g.228997728del
GRCh37
NC_000001.9:g.227064351del
NCBI36
Search 100 bp 5'
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