Canonical Allele Identifier: CA2521092573
Gene:

Linked Data

gnomAD v4: 9-128945526-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128945526G>C , CM000671.2:g.128945526G>C GRCh38
NC_000009.11:g.131707805G>C , CM000671.1:g.131707805G>C GRCh37
NC_000009.10:g.130747626G>C NCBI36
NG_017009.1:g.7208C>G , LRG_744:g.7208C>G
NG_033111.1:g.2834G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000482796.1:c.39-3663G>C ENSP00000417556.2:n.39-3663G>C
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