ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916054876
Gene: HIBCH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
520646
ClinVar RCV Id:
RCV000624273
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_932164.1:p.His248Arg
CA2027527
NM_198047.3:c.743A>G