ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA259412
Gene: GALT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2675831
ClinVar RCV Id:
RCV003461649
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000146.2:p.Gln169Lys
CA259411
NM_000155.4:c.505C>A