Canonical Allele Identifier: CA1306599536
Gene: PTCHD3P2 HGNC NCBI
KLHL23 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.169767625G= , CM000664.2:g.169767625G= GRCh38
NC_000002.11:g.170624135G= , CM000664.1:g.170624135G= GRCh37
NC_000002.10:g.170332381G= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000424937.1:n.1087+88C= (PTCHD3P2)
ENST00000437875.1:c.830-5695G= (KLHL23) ENSP00000394732.1:n.830-5695G=
ENST00000448589.1:c.46-8816G= (KLHL23)
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