ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829869964
Gene: ANO1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060513.5:p.Thr740Ile
CA381672010
NM_018043.7:c.2219C>T