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Canonical Allele Identifier:
CA2645835973
Gene: PCSK9
HGNC
NCBI
Linked Data
gnomAD v4:
1-55039511-C-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.55039511C>G , CM000663.2:g.55039511C>G
GRCh38
NC_000001.10:g.55505184C>G , CM000663.1:g.55505184C>G
GRCh37
NC_000001.9:g.55277772C>G
NCBI36
NG_009061.1:g.4965C>G , LRG_275:g.4965C>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000673913.2:c.-327C>G
ENSP00000501161.2:n.-327C>G
ENST00000710286.1:c.31C>G
ENSP00000518176.1:p.Pro11Ala
ENST00000673726.1:c.-327C>G
ENSP00000501004.1:n.-327C>G
NM_174936.3:c.-327C>G , LRG_275t1:c.-327C>G
NP_777596.2:n.-327C>G
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