ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA305147
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000058199
RCV000181911
RCV000987996
RCV001088304
RCV001804794
RCV001841744
RCV004019015
RCV004549486
ClinVar Variation:
67471
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742054.1:p.Val698Met
CA007991
NM_172057.3:c.2092G>A