ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA110778
Gene: KCNQ1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
52936
ClinVar RCV Id:
RCV000057534
RCV000223824
RCV001384422
RCV002381340
RCV002470738
RCV003591636
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000209.2:p.Ala344Val
CA004967
NM_000218.3:c.1031C>T