ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828738312
Gene: ANO1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365026.1:p.Met599Val
CA381670394
NM_001378097.2:c.1795A>G