ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA115821
Gene: PCSK9
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_777596.2:p.Arg46Leu
NM_174936.4:c.137G>T