ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA111185
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
53138
ClinVar RCV Id:
RCV000057813
RCV001555578
RCV002444509
RCV002514226
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Gly314Asp
CA008793
NM_000218.3:c.941G>A