ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139751145
Gene: KCNQ4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
208366
ClinVar RCV Id:
RCV000484405
RCV000656422
RCV001089683
RCV000825943
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_751895.1:p.Ser269del
CA347424
NM_172163.3:c.806_808del