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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:
CA345723
Gene: KCNJ18
HGNC
NCBI
Linked Data
dbSNP Id:
rs527236152
gnomAD v3:
17-21703205-C-T
gnomAD v4:
17-21703205-C-T
MyVariant Identifiers:
chr17:g.21703205C>T (hg38)
PubMed:
PMID:20301512
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.21703205C>T , CM000679.2:g.21703205C>T
GRCh38
NG_033093.1:g.15683C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000567955.3:c.419C>T
MANE Select
ENSP00000457807.2:p.Thr140Met
NM_001194958.2:c.419C>T
MANE Select
NP_001181887.2:p.Thr140Met
XM_005276919.2:c.725C>T
XP_005276976.1:p.Thr242Met
XM_005276919.3:c.725C>T
XP_005276976.1:p.Thr242Met
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