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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:
CA1672973826
Gene:
Linked Data
dbSNP Id:
rs1777129061
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.151627154dup , CM000668.2:g.151627154dup
GRCh38
NC_000006.11:g.151948289dup , CM000668.1:g.151948289dup
GRCh37
NC_000006.10:g.151989982dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_943113.1:n.580dup
XR_943115.1:n.580dup
Search 100 bp 5'
Search 100 bp 3'