ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA328227
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
77944
ClinVar RCV:
RCV000057616
RCV002513747
ClinVar Variation:
67048
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Arg435Met
CA006176
NM_181798.1:c.1304G>T