ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573195583
Gene: CHRND
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001298125.1:p.Ser48Phe
CA2168030
NM_001311196.2:c.143C>T