ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA328461
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
67180
ClinVar RCV Id:
RCV000057887
RCV001588889
RCV001854189
RCV003993785
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Ser88Leu
CA004407
NM_172057.3:c.263C>T