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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:
CA1335653474
Gene: ATG16L1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.233250174_233250176delinsACT , CM000664.2:g.233250174_233250176delinsACT
GRCh38
NC_000002.11:g.234158820_234158822delinsACT , CM000664.1:g.234158820_234158822delinsACT
GRCh37
NC_000002.10:g.233823559_233823561delinsACT
NCBI36
NG_023038.1:g.3604_3606delinsACT
Transcript Alleles
HGVS
Amino-acid change
ENST00000431917.5:c.-137-5928_-137-5926delinsACT
ENSP00000397512.1:n.-137-5928_-137-5926delinsACT
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