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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:
CA2681069844
Gene: SLC22A2
HGNC
NCBI
Linked Data
gnomAD v4:
6-160249103-TG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.160249105del , CM000668.2:g.160249105del
GRCh38
NC_000006.11:g.160670137del , CM000668.1:g.160670137del
GRCh37
NC_000006.10:g.160590127del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000366953.8:c.842+112del
MANE Select
ENSP00000355920.3:n.842+112del
ENST00000366952.1:c.779+112del
ENSP00000355919.1:n.779+112del
ENST00000366953.7:c.842+112del
ENSP00000355920.3:n.842+112del
ENST00000491092.1:n.739+112del
NM_003058.3:c.842+112del
NP_003049.2:n.842+112del
NM_003058.4:c.842+112del
MANE Select
NP_003049.2:n.842+112del
Search 100 bp 5'
Search 100 bp 3'