Canonical Allele Identifier: CA1138925232
Gene: RFTN1P1 HGNC NCBI

Linked Data

gnomAD v3: Y-7777364-T-G
gnomAD v4: Y-7777364-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7777364T>G , CM000686.2:g.7777364T>G GRCh38
NC_000024.9:g.7645405T>G , CM000686.1:g.7645405T>G GRCh37
NC_000024.8:g.7705405T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651261.1:n.115-660A>C
ENST00000652723.1:n.1027-660A>C
ENST00000442584.2:n.219-336A>C
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