ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645438677
Gene: CHRND
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000549495
RCV001140968
RCV001704263
ClinVar Variation:
385691
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001298124.1:p.Ser48Leu
CA2168023
NM_001311195.2:c.143C>T