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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:
CA686494394
Gene: ST8SIA1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1441333225
MyVariant Identifiers:
chr12:g.22566465_22566480del (hg19)
chr12:g.22413531_22413546del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.22413533_22413548del , CM000674.2:g.22413533_22413548del
GRCh38
NC_000012.11:g.22566467_22566482del , CM000674.1:g.22566467_22566482del
GRCh37
NC_000012.10:g.22457734_22457749del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000536558.5:n.166+23330_166+23345del
Search 100 bp 5'
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