ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916030204
Gene: MECR
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001336644.1:p.Gly267Glu
NM_001349715.2:c.800G>A