ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915989269
Gene: NSDHL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11430
ClinVar RCV Id:
RCV000012183
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057006.1:p.Ala182Pro
CA255884
NM_015922.2:c.544G>C