ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA101675
Gene: GUSB
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000172.2:p.Ala619Val
NM_000181.4:c.1856C>T