ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645481804
Gene: PLPBP
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_009129.1:p.Ser78Ter
NM_007198.4:c.233C>A
NM_007198.4:c.233C>G