ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830337325
Gene: KCNJ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
9157
ClinVar RCV Id:
RCV000009727
RCV003555991
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_722450.1:p.Ala195Val
CA120154
NM_153766.3:c.584C>T