ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828223492
Gene: DSCAML1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
402156
ClinVar RCV Id:
RCV000454190
RCV002526372
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354834.1:p.Val275Ile
CA6297318
NM_001367905.1:c.823G>A