ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA131324
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
42492
ClinVar RCV Id:
RCV000035348
RCV000057724
RCV001083578
RCV001841562
RCV004017282
RCV004534736
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Val80Met
CA007786
NM_181798.1:c.238G>A