ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826253848
Gene: GALC
HGNC
NCBI
Linked Data
ClinVar Variation Id:
211059
ClinVar RCV Id:
RCV000193133
RCV000395974
RCV002261004
RCV003955152
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001188330.1:p.Arg197Gln
CA206409
NM_001201401.2:c.590G>A