ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA257236
Gene: KCNH2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
14427
ClinVar RCV Id:
RCV000015508
RCV000058029
RCV000223848
RCV000822422
RCV002408467
RCV004549371
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_742053.1:p.Gly628Ser
CA005807
NM_172056.2:c.1882G>A