ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830272596
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_660320.3:p.Arg144Gln
CA1053891
NM_145277.5:c.431G>A