Canonical Allele Identifier: PA2827551708
Gene: HACE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 221292

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001337483.1:p.Leu754del
CA351540
NM_001350554.2:c.2256_2258del
CA365313471
NM_001350554.2:c.2261T>A
CA365313473
NM_001350554.2:c.2261T>G
CA1652628618
NM_001350554.2:c.2257_2259del