Canonical Allele Identifier: CA2778367047
Gene:
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.148807228C>A , CM000669.2:g.148807228C>A GRCh38
NC_000007.13:g.148504320C>A , CM000669.1:g.148504320C>A GRCh37
NC_000007.12:g.148135253C>A NCBI36
NG_032043.1:g.82122G>T , LRG_531:g.82122G>T

Transcript Alleles

HGVS Amino-acid Change
XR_928101.1:n.515+2143C>A
XR_928102.1:n.722+2143C>A
Search 100 bp 5'
Search 100 bp 3'