ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA201893
Gene: ELP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
137577
ClinVar RCV Id:
RCV000176295
RCV000376411
RCV000860346
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003631.2:p.Gly765Glu
CA201891
NM_003640.5:c.2294G>A