ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA891865345
Gene: MECR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057095.4:p.Arg258Trp
CA725666
NM_016011.5:c.772C>T