ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104996
Gene: MCCC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_064551.3:p.Ser535Phe
CA251978
NM_020166.5:c.1604C>T