ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829112146
Gene: PANK2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000004816
RCV000132733
RCV001310448
RCV002512773
ClinVar Variation:
4556
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001373322.1:p.Thr418Met
CA116923
NM_001386393.1:c.1253C>T