ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA356440
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
219923
ClinVar RCV Id:
RCV000206878
RCV002381704
RCV003591714
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Pro448Gln
CA028774
NM_000218.3:c.1343C>A