Canonical Allele Identifier: PA2827552208
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_001337487.1:p.Leu664del
CA351540
NM_001350558.2:c.1986_1988del
CA1652628618
NM_001350558.2:c.1987_1989del