Canonical Allele Identifier: PA2829821172
Gene: SAMM50 HGNC NCBI
ClinVar RCV:
RCV004450052
ClinVar Variation:
3157731
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056195.3:p.Arg180Trp
CA10278509
NM_015380.5:c.538C>T