ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829933098
Gene: ANK1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2439047
ClinVar RCV Id:
RCV003141382
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065208.2:p.His1730Leu
CA371051726
NM_020475.3:c.5189A>T