Canonical Allele Identifier: CA2642457426
Gene:

Linked Data

gnomAD v4: 1-817263-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.817263C>A , CM000663.2:g.817263C>A GRCh38
NC_000001.10:g.752643C>A , CM000663.1:g.752643C>A GRCh37
NC_000001.9:g.742506C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000634337.2:n.127+10407G>T
ENST00000635509.2:n.100+10407G>T
ENST00000447500.4:n.340+110G>T
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