ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3063618109
Gene: UBA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003325.2:p.Val578Met
CA412802203
NM_003334.4:c.1732G>A