ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093163
Gene: GALT
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000146.2:p.Phe117Ser
NM_000155.4:c.350T>C