ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3063912632
Gene: SCMH1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001026864.1:p.Pro17Leu
CA796592
NM_001031694.3:c.50C>T