ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827509813
Gene: MECR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336643.1:p.Arg182Trp
CA725666
NM_001349714.2:c.544C>T