ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA292032
Gene: MCCC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
138181
ClinVar RCV Id:
RCV000126700
RCV000872405
RCV001273489
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_064551.3:p.Glu717Lys
CA292031
NM_020166.5:c.2149G>A