ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916009003
Gene: ATP1A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
280121
ClinVar RCV Id:
RCV000272828
RCV001197881
RCV001266079
RCV003236579
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243143.1:p.Pro788Leu
CA10603656
NM_001256214.2:c.2363C>T