ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827509710
Gene: MECR
HGNC
NCBI
Linked Data
ClinVar Variation Id:
374881
ClinVar RCV Id:
RCV000415576
RCV000755159
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001336642.1:p.Tyr209Cys
CA725617
NM_001349713.2:c.626A>G