ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830472519
Gene: HJV
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2539549
ClinVar RCV Id:
RCV004313613
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_973733.1:p.Lys167Arg
CA1053974
NM_202004.4:c.500A>G