ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139737820
Gene: NSDHL
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000020430
ClinVar Variation:
21268
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057006.1:p.Lys232del
CA341819
NM_015922.2:c.696_698del