ClinGen Allele Registry
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Canonical Allele Identifier:
PA645377543
Gene: PURA
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_005850.1:p.Ile206del
NM_005859.5:c.616_618del
NM_005859.5:c.[616_618del;621C=]
NM_005859.5:c.[616_618del;621C>T]