ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645379820
Gene: DSCAML1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065744.2:p.Val471Ile
CA6297318
NM_020693.3:c.1411G>A