Canonical Allele Identifier: PA2741964345
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2741097
ClinVar RCV Id: RCV003497536
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Ser1566Arg
CA4760181
NM_017780.4:c.4698T>G
CA371319065
NM_017780.4:c.4696A>C
CA371319073
NM_017780.4:c.4698T>A