Canonical Allele Identifier: PA2573270459
Gene: CHD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 997969
ClinVar RCV Id: RCV001293652
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Asp2119_Pro2120insHisHisIleLeuAsnAsp
CA1788103564
NM_017780.4:c.6341_6358dup