ClinGen Allele Registry
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Canonical Allele Identifier:
PA2741905714
Gene: DCHS1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
2978517
ClinVar RCV:
RCV003714127
ClinVar Variation:
2822558
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003728.1:p.Arg2513Leu
CA379482880
NM_003737.3:c.7538G>T