Canonical Allele Identifier: CA2649624203
Gene:

Linked Data

gnomAD v4: 1-193121720-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193121720G>T , CM000663.2:g.193121720G>T GRCh38
NC_000001.10:g.193090850G>T , CM000663.1:g.193090850G>T GRCh37
NC_000001.9:g.191357473G>T NCBI36
NG_012691.1:g.4763G>T , LRG_507:g.4763G>T

Transcript Alleles

HGVS Amino-acid Change
XR_001738350.1:n.1937C>A
Search 100 bp 5'
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