ClinGen Allele Registry
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Canonical Allele Identifier:
PA151399
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000046107
RCV000057734
RCV000115007
RCV000115008
RCV000182101
RCV000762833
RCV002371883
ClinVar Variation:
53087
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Arg104His
CA007925
NM_181798.1:c.311G>A