ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573258908
Gene: SMPX
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055147.1:p.Ser78Asn
CA412562245
NM_014332.3:c.233G>A