ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829821169
Gene: SAMM50
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV004450050
ClinVar Variation:
3157729
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056195.3:p.Val118Ile
CA10278456
NM_015380.5:c.352G>A