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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:
CA2021550019
Gene: ST8SIA1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1867535797
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.22413514dup , CM000674.2:g.22413514dup
GRCh38
NC_000012.11:g.22566448dup , CM000674.1:g.22566448dup
GRCh37
NC_000012.10:g.22457715dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000536558.5:n.166+23367dup
Search 100 bp 5'
Search 100 bp 3'