Canonical Allele Identifier: PA2827552325
Gene: HACE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 221292
ClinVar RCV Id: RCV000207174 RCV003325305
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001337488.1:p.Leu638del
CA351540
NM_001350559.2:c.1908_1910del
CA1652628618
NM_001350559.2:c.1909_1911del