ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580401776
Gene: OPLAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2157798
ClinVar RCV Id:
RCV003079669
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060040.1:p.Asp992Ala
CA372537037
NM_017570.5:c.2975A>C