ClinGen Allele Registry
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Canonical Allele Identifier:
PA305608
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000046123
RCV000057755
RCV000223916
RCV000619999
RCV000678929
ClinVar Variation:
53100
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Arg132Cys
CA008177
NM_181798.1:c.394C>T