ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830443005
Gene: GANAB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_938148.1:p.Arg817Trp
CA10586211
NM_198334.3:c.2449C>T