ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741881357
Gene: GALK1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001368914.1:p.Leu139Pro
CA8770956
NM_001381985.1:c.416T>C