ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826467666
Gene: GALT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
529225
ClinVar RCV Id:
RCV000634557
RCV001270213
RCV000733886
RCV001835014
RCV003892439
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245261.1:p.Arg114Cys
CA5036181
NM_001258332.2:c.340C>T