ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826467675
Gene: GALT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
25246
ClinVar RCV Id:
RCV000022184
RCV000185919
RCV001831602
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001245261.1:p.Arg122Cys
CA259477
NM_001258332.2:c.364C>T