ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830390007
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
519367
ClinVar RCV Id:
RCV000619330
RCV001043791
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Asp174Val
CA379131717
NM_181798.1:c.521A>T