ClinGen Allele Registry
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Canonical Allele Identifier:
PA176469
Gene: KCNQ1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000057650
RCV000150875
RCV000264808
RCV000324628
RCV000359475
RCV000360577
RCV000620004
RCV001094060
RCV001841535
ClinVar Variation:
36437
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_861463.1:p.Gly516Ser
CA006598
NM_181798.1:c.1546G>A