ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580295399
Gene: DCHS1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003062333
ClinVar Variation:
2136998
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003728.1:p.Arg1139Cys
CA5860548
NM_003737.3:c.3415C>T