ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580572725
Gene: ANO5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2137032
ClinVar RCV Id:
RCV003058295
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_998764.1:p.Ser500Phe
CA379922165
NM_213599.3:c.1499C>T