Canonical Allele Identifier: PA2580395323
Gene: SAMM50 HGNC NCBI
ClinVar RCV:
RCV004194279
ClinVar Variation:
2351146
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_056195.3:p.Lys194Asn
CA10278548
NM_015380.5:c.582A>T
CA411853462
NM_015380.5:c.582A>C