ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3068130474
Gene: HIBCH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055177.2:p.Glu316Ala
CA349894327
NM_014362.4:c.947A>C