ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658660076
Gene: PCSK9
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_777596.2:p.Leu253Phe
CA044357
NM_174936.4:c.757C>T