Canonical Allele Identifier: CA2202178892
Gene: ABCA17P HGNC NCBI

Linked Data

dbSNP Id: rs914074694
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.2340879T>C , CM000678.2:g.2340879T>C GRCh38
NC_000016.9:g.2390880T>C , CM000678.1:g.2390880T>C GRCh37
NC_000016.8:g.2330881T>C NCBI36
NG_011790.1:g.4868A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000640929.1:n.42+1548T>C
ENST00000512848.5:n.182+1548T>C
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