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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:
CA2546451544
Gene: ST8SIA1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.22413512_22413513insTAGTAAT , CM000674.2:g.22413512_22413513insTAGTAAT
GRCh38
NC_000012.11:g.22566446_22566447insTAGTAAT , CM000674.1:g.22566446_22566447insTAGTAAT
GRCh37
NC_000012.10:g.22457713_22457714insTAGTAAT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000536558.5:n.166+23363_166+23364insATTACTA
Search 100 bp 5'
Search 100 bp 3'