Canonical Allele Identifier: PA3075062053
Gene: CHD7 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_060250.2:p.Lys1511Asn
CA371318443
NM_017780.4:c.4533G>C
CA371318444
NM_017780.4:c.4533G>T