ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA300912
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000170700
RCV000200456
RCV001260348
RCV002354415
ClinVar Variation:
190570
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139.3:p.Pro1339Leu
CA300908
NM_001148.6:c.4016C>T