Canonical Allele Identifier: PA2827552086
Gene: HACE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 221292

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001337486.1:p.Leu664del
CA351540
NM_001350557.2:c.1986_1988del
CA365313471
NM_001350557.2:c.1991T>A
CA365313473
NM_001350557.2:c.1991T>G
CA1652628618
NM_001350557.2:c.1987_1989del