Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA105723

Gene: HSD17B3 HGNC NCBI

Linked Data

ClinVar Variation Id: 4872

ClinVar RCV Id: RCV000005148 RCV002512796

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000188.1:p.Ser232Leu	CA117110 NM_000197.2:c.695C>T