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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:
CA1672973820
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.151627143_151627144delinsGA , CM000668.2:g.151627143_151627144delinsGA
GRCh38
NC_000006.11:g.151948278_151948279delinsGA , CM000668.1:g.151948278_151948279delinsGA
GRCh37
NC_000006.10:g.151989971_151989972delinsGA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_943113.1:n.569_570delinsGA
XR_943115.1:n.569_570delinsGA
Search 100 bp 5'
Search 100 bp 3'