ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580396174
Gene: RCHY1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_056251.2:p.Lys58Glu
CA357275415
NM_015436.4:c.172A>G