ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA120917
Gene: HPRT1
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000185.1:p.Leu65Phe
NM_000194.3:c.193C>T