Canonical Allele Identifier: CA1139008216
Gene: RFTN1P1 HGNC NCBI

Linked Data

gnomAD v3: Y-7702677-C-T
gnomAD v4: Y-7702677-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.7702677C>T , CM000686.2:g.7702677C>T GRCh38
NC_000024.9:g.7570718C>T , CM000686.1:g.7570718C>T GRCh37
NC_000024.8:g.7630718C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000651261.1:n.677-1414G>A
Search 100 bp 5'
Search 100 bp 3'