ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573101055
Gene: GANAB
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_938149.2:p.Val747Ile
CA6050569
NM_198335.4:c.2239G>A