ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580572721
Gene: ANO5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2476077
ClinVar RCV Id:
RCV003193462
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_998764.1:p.Val474Leu
CA379921993
NM_213599.3:c.1420G>C