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Canonical Allele Identifier: Get Identifier
Gene: CHD7 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000436027.1:p.[Pro515_Pro516del;Gln518_Ser527delinsHisCysSerLeuThrArgAlaCysThrThr;Pro529_Pro530delinsLeu;Pro532Leu;His534_Leu540delinsThrLeuIleThrSerLeuGly;Pro542Ser;Ser543_Pro544insThrHisHis]
CA2695209578
ENST00000525508.1:c.1544del