ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580295527
Gene: DCHS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003728.1:p.Thr2334Met
CA5859713
NM_003737.3:c.7001C>T