Canonical Allele Identifier: CA2731788175
Gene: PPL HGNC NCBI

Linked Data

dbSNP Id: rs2142455076
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4951423G>A , CM000678.2:g.4951423G>A GRCh38
NC_000016.9:g.5001424G>A , CM000678.1:g.5001424G>A GRCh37
NC_000016.8:g.4941425G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000592772.1:c.-92+9141C>T ENSP00000467699.1:n.-92+9141C>T
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