ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105090
Gene: HPRT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
10030
ClinVar RCV Id:
RCV000010714
RCV000010715
RCV001851783
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000185.1:p.Asp80Val
CA120888
NM_000194.3:c.239A>T