ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916028639
Gene: ELP1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000355008
RCV000757404
RCV004022089
ClinVar Variation:
364552
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317678.1:p.Asn941Ser
CA5174147
NM_001330749.2:c.2822A>G