ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830047512
Gene: PANK2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079236.3:p.Pro173Arg
CA408117961
NM_024960.6:c.518C>G