ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA144630
Gene: ANO5
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_998764.1:p.Thr514Ile
NM_213599.3:c.1541C>T