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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:
CA1434911394
Gene: STX18-AS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1734079861
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.4652478del , CM000666.2:g.4652478del
GRCh38
NC_000004.11:g.4654205del , CM000666.1:g.4654205del
GRCh37
NC_000004.10:g.4705106del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
NR_037888.1:n.818+2936del
Search 100 bp 5'
Search 100 bp 3'