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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:
CA1149683795
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.2567454_2567455delinsAC , CM000663.2:g.2567454_2567455delinsAC
GRCh38
NC_000001.10:g.2498893_2498894delinsAC , CM000663.1:g.2498893_2498894delinsAC
GRCh37
NC_000001.9:g.2475524_2475525delinsGT
NCBI36
NG_047096.1:g.16090_16091delinsAC
Transcript Alleles
HGVS
Amino-acid Change
NR_121638.1:n.71+849_71+850delinsAC
Search 100 bp 5'
Search 100 bp 3'