ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3063947159
Gene: SCMH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_036368.1:p.Pro266Ser
CA796391
NM_012236.4:c.796C>T