Canonical Allele Identifier: PA2827072465
Gene: HACE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 221292
ClinVar RCV Id: RCV000207174 RCV003325305
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308009.1:p.Leu788del
CA351540
NM_001321080.2:c.2358_2360del
CA1652628618
NM_001321080.2:c.2359_2361del