ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645435800
Gene: PCSK1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000430.3:p.Gln665Glu
CA3350069
NM_000439.5:c.1993C>G