ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499264543
Gene: DCHS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003728.1:p.Val332Met
CA379438095
NM_003737.3:c.994G>A