Canonical Allele Identifier: PA1139724394
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 909565
ClinVar RCV Id: RCV001160697 RCV001449746 RCV002032488 RCV002491468 RCV003992453
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Pro548Leu
CA4759524
NM_017780.4:c.1643C>T