Canonical Allele Identifier: PA2829843886
Gene: MECR HGNC NCBI

Linked Data

ClinVar Variation Id: 2175054
ClinVar RCV Id: RCV002602231
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_057095.4:p.Asp352Glu
CA725531
NM_016011.5:c.1056C>G
CA339537035
NM_016011.5:c.1056C>A