ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645462416
Gene: ANO5
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000295585
RCV001244701
RCV004021272
ClinVar Variation:
289227
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_998764.1:p.Val729Ile
CA5923471
NM_213599.3:c.2185G>A