ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827812492
Gene: ANK2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1315970
ClinVar RCV Id:
RCV001757417
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341187.1:p.Leu1054Phe
CA357935960
NM_001354258.2:c.3160C>T