ClinGen Allele Registry
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Canonical Allele Identifier:
PA111278
Gene: ANO5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2166
ClinVar RCV Id:
RCV000002250
RCV000032966
RCV000128778
RCV000811162
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_998764.1:p.Arg758Cys
CA130516
NM_213599.3:c.2272C>T