ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826240222
Gene: HSD17B4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
350463
ClinVar RCV Id:
RCV000319617
RCV000374018
RCV000730900
RCV002520294
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186221.1:p.Ala253Thr
CA3381989
NM_001199292.2:c.757G>A