ClinGen Allele Registry
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Canonical Allele Identifier:
PA3085852618
Gene: GPATCH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060495.2:p.His724Arg
CA9361604
NM_018025.3:c.2171A>G