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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:
CA634913673
Gene:
Linked Data
dbSNP Id:
rs1331233555
gnomAD v2:
20-23642259-G-GA
gnomAD v3:
20-23661622-G-GA
gnomAD v4:
20-23661622-G-GA
MyVariant Identifiers:
chr20:g.23642259_23642260insA (hg19)
chr20:g.23661622_23661623insA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.23661626dup , CM000682.2:g.23661626dup
GRCh38
NC_000020.10:g.23642263dup , CM000682.1:g.23642263dup
GRCh37
NC_000020.9:g.23590263dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_001754712.1:n.256dup
Search 100 bp 5'
Search 100 bp 3'