ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA254313
Gene: PAFAH1B1
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000421.1:p.Arg273Ter
NM_000430.4:c.817C>T