Canonical Allele Identifier: CA2391130641
Gene:

Linked Data

dbSNP Id: rs1985727351
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43168983C>G , CM000683.2:g.43168983C>G GRCh38
NG_009823.1:g.4953C>G

Transcript Alleles

HGVS Amino-acid Change
XR_001755073.1:n.647+2054G>C
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Search 100 bp 3'