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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:
CA1072520667
Gene: SLC6A3
HGNC
NCBI
Linked Data
dbSNP Id:
rs1756109767
gnomAD v3:
5-1411072-GC-G
gnomAD v4:
5-1411072-GC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1411076del , CM000667.2:g.1411076del
GRCh38
NC_000005.9:g.1411191del , CM000667.1:g.1411191del
GRCh37
NC_000005.8:g.1464191del
NCBI36
NG_015885.1:g.39356del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000270349.12:c.1269+170del
MANE Select
ENSP00000270349.9:n.1269+170del
ENST00000270349.11:c.1269+170del
ENSP00000270349.9:n.1269+170del
NM_001044.4:c.1269+170del
NP_001035.1:n.1269+170del
NM_001044.5:c.1269+170del
MANE Select
NP_001035.1:n.1269+170del
Search 100 bp 5'
Search 100 bp 3'