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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
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Canonical Allele Identifier:
CA2021550036
Gene: ST8SIA1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.22413530_22413546delinsAAAGGAGCAATTCTATG , CM000674.2:g.22413530_22413546delinsAAAGGAGCAATTCTATG
GRCh38
NC_000012.11:g.22566464_22566480delinsAAAGGAGCAATTCTATG , CM000674.1:g.22566464_22566480delinsAAAGGAGCAATTCTATG
GRCh37
NC_000012.10:g.22457731_22457747delinsAAAGGAGCAATTCTATG
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000536558.5:n.166+23330_166+23346delinsCATAGAATTGCTCCTTT
Search 100 bp 5'
Search 100 bp 3'