ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826240419
Gene: HSD17B4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
495866
ClinVar RCV Id:
RCV000763126
RCV000590157
RCV001220352
RCV002530904
RCV003987613
RCV002260650
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186221.1:p.Arg488Cys
CA3382299
NM_001199292.2:c.1462C>T