ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658654168
Gene: SMS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
441113
ClinVar RCV Id:
RCV000509103
RCV000522772
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004586.2:p.Asp222Val
CA412568970
NM_004595.5:c.665A>T