ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827510230
Gene: MECR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336646.1:p.Tyr235Cys
CA725617
NM_001349717.2:c.704A>G