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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:
CA2520017972
Gene: ST8SIA1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.22413435_22413436insCTAATTTTTGTA , CM000674.2:g.22413435_22413436insCTAATTTTTGTA
GRCh38
NC_000012.11:g.22566369_22566370insCTAATTTTTGTA , CM000674.1:g.22566369_22566370insCTAATTTTTGTA
GRCh37
NC_000012.10:g.22457636_22457637insCTAATTTTTGTA
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000536558.5:n.166+23440_166+23441insTACAAAAATTAG
Search 100 bp 5'
Search 100 bp 3'