ClinGen Allele Registry
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Canonical Allele Identifier:
PA305783
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
200846
ClinVar RCV Id:
RCV000182184
RCV001852305
RCV002381589
RCV002485201
RCV001842871
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Asp319Asn
CA005599
NM_181798.1:c.955G>A