ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829543916
Gene: NEB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
393007
ClinVar RCV Id:
RCV000425742
RCV000550442
RCV002506082
RCV004551506
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004534.3:p.Asp5285His
CA1907121
NM_004543.5:c.15853G>C