ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830390048
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000822437
RCV003222147
ClinVar Variation:
664353
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Ile186Phe
CA379132972
NM_181798.1:c.556A>T