ClinGen Allele Registry
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Canonical Allele Identifier:
PA326270
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
67777
ClinVar RCV:
RCV000046134
RCV000057767
RCV000523854
RCV002415500
RCV002490608
ClinVar Variation:
53109
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Gly272Asp
CA008316
NM_000218.3:c.815G>A