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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:
CA649598187
Gene: SLC6A3
HGNC
NCBI
Linked Data
COSMIC:
COSN22146723
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.1394252dup , CM000667.2:g.1394252dup
GRCh38
NC_000005.9:g.1394367dup , CM000667.1:g.1394367dup
GRCh37
NC_000005.8:g.1447367dup
NCBI36
NG_015885.1:g.56177dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000270349.12:c.*483dup
MANE Select
ENSP00000270349.9:n.*483dup
ENST00000270349.11:c.*483dup
ENSP00000270349.9:n.*483dup
ENST00000512002.2:n.727dup
NM_001044.4:c.*483dup
NP_001035.1:n.*483dup
NM_001044.5:c.*483dup
MANE Select
NP_001035.1:n.*483dup
Search 100 bp 5'
Search 100 bp 3'