ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580336717
Gene: PCSK5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006191.2:p.Ala421Val
CA373779638
NM_006200.6:c.1262C>T