ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825099440
Gene: KCNH2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000535906
RCV000620231
RCV001841442
RCV003335453
ClinVar Variation:
456925
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000229.1:p.Pro1084Leu
CA038119
NM_000238.4:c.3251C>T