ClinGen Allele Registry
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Canonical Allele Identifier:
CA1140424646
Gene: SCMH1-DT
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.41307830C= , CM000663.2:g.41307830C=
GRCh38
NC_000001.10:g.41773502C= , CM000663.1:g.41773502C=
GRCh37
NC_000001.9:g.41546089C=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_947249.1:n.501-18128C=
Search 100 bp 5'
Search 100 bp 3'