ClinGen Allele Registry
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Canonical Allele Identifier:
PA645393629
Gene: ATP1A3
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000148303
RCV000414799
RCV001234241
RCV001551275
ClinVar Variation:
161122
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243143.1:p.Ser150Phe
CA345998
NM_001256214.2:c.449C>T