ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916030205
Gene: MECR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336644.1:p.Arg293Trp
CA725666
NM_001349715.2:c.877C>T