ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915965599
Gene: HPRT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000185.1:p.His204Tyr
CA414716345
NM_000194.3:c.610C>T