ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499256707
Gene: GALK1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001314310
ClinVar Variation:
1015448
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001368914.1:p.Pro28Ser
CA401109860
NM_001381985.1:c.82C>T