ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580317584
Gene: NELFA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2296133
ClinVar RCV Id:
RCV004143196
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005654.4:p.Pro218Leu
CA91309948
NM_005663.5:c.653C>T