Canonical Allele Identifier: PA2827510130
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_001336645.1:p.Asp380Glu
CA725531
NM_001349716.2:c.1140C>G
CA339537035
NM_001349716.2:c.1140C>A