ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829821183
Gene: SAMM50
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056195.3:p.Pro377Ala
CA10278777
NM_015380.5:c.1129C>G