ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA313288
Gene: ATP1A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
204889
ClinVar RCV Id:
RCV000867265
RCV002492861
RCV001704968
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000693.1:p.Val501Met
CA313286
NM_000702.4:c.1501G>A