ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827346756
Gene: ELP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
242310
ClinVar RCV Id:
RCV000229285
RCV000798294
RCV004020905
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317678.1:p.Gln634Leu
CA5174492
NM_001330749.2:c.1901A>T