ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830527764
Gene: HJV
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3106093
ClinVar RCV Id:
RCV004399483
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_998818.1:p.Arg257Gln
CA1053891
NM_213653.4:c.770G>A