ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645377469
Gene: PURA
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_005850.1:p.Asn162Lys
NM_005859.5:c.486C>A
NM_005859.5:c.486C>G