ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA275056
Gene: GALC
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000144.2:p.Arg69Ter
NM_000153.4:c.205C>T