ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828125942
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_001350809.1:p.Glu608Lys
CA292031
NM_001363880.1:c.1822G>A