ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658664229
Gene: PCSK1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
450068
ClinVar RCV Id:
RCV000522431
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000430.3:p.His592Asn
CA360478118
NM_000439.5:c.1774C>A