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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:
CA2713609306
Gene: SLC22A2
HGNC
NCBI
Linked Data
dbSNP Id:
rs2114877043
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.160260257_160260261del , CM000668.2:g.160260257_160260261del
GRCh38
NC_000006.11:g.160681289_160681293del , CM000668.1:g.160681289_160681293del
GRCh37
NC_000006.10:g.160601279_160601283del
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000366952.1:c.-870_-866del
ENSP00000355919.1:n.-870_-866del
Search 100 bp 5'
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