ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA328297
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000057716
RCV003227632
ClinVar Variation:
67090
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Ser72Ala
CA007685
NM_181798.1:c.214T>G