Canonical Allele Identifier: CA2743291785
Gene: PPT1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097478C>G , CM000663.2:g.40097478C>G GRCh38
NC_000001.10:g.40563150C>G , CM000663.1:g.40563150C>G GRCh37
NC_000001.9:g.40335737C>G NCBI36
NG_009192.1:g.4993G>C , LRG_690:g.4993G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-240G>C ENSP00000394863.3:n.-240G>C
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