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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:
CA1676979789
Gene: SLC22A2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1783358900
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.160260285_160260290dup , CM000668.2:g.160260285_160260290dup
GRCh38
NC_000006.11:g.160681317_160681322dup , CM000668.1:g.160681317_160681322dup
GRCh37
NC_000006.10:g.160601307_160601312dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000366952.1:c.-898_-893dup
ENSP00000355919.1:n.-898_-893dup
Search 100 bp 5'
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