ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916009033
Gene: ATP1A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000193987
ClinVar Variation:
210383
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001243143.1:p.Asp814His
CA207845
NM_001256214.2:c.2440G>C