ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3070948403
Gene: PCSK1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000430.3:p.Glu250Lys
CA360482472
NM_000439.5:c.748G>A