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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:
CA929708308
Gene:
Linked Data
dbSNP Id:
rs200070208
gnomAD v3:
10-70767579-C-CAAA
gnomAD v4:
10-70767579-C-CAAA
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.70767583_70767585dup , CM000672.2:g.70767583_70767585dup
GRCh38
NC_000010.10:g.72527339_72527341dup , CM000672.1:g.72527339_72527341dup
GRCh37
NC_000010.9:g.72197345_72197347dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'