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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:
CA20757628
Gene:
Linked Data
dbSNP Id:
rs35766236
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.34523589dup , CM000663.2:g.34523589dup
GRCh38
NC_000001.10:g.34989190dup , CM000663.1:g.34989190dup
GRCh37
NC_000001.9:g.34761777dup
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_947171.1:n.1073+23991dup
XR_001737964.1:n.991+23991dup
Search 100 bp 5'
Search 100 bp 3'