ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658654556
Gene: KCNV2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
441136
ClinVar RCV Id:
RCV000509314
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_598004.1:p.Asn50His
CA187970382
NM_133497.4:c.148A>C