ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827346454
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_001317678.1:p.Gly416Glu
CA201891
NM_001330749.2:c.1247G>A