ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA105020
Gene: HPRT1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
25076
ClinVar RCV:
RCV000010728
ClinVar Variation:
10037
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000185.1:p.Asp194Asn
CA120893
NM_000194.3:c.580G>A