ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829803801
Gene: ACSBG1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3139404
ClinVar RCV Id:
RCV004427748
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055977.3:p.His228Leu
CA7681280
NM_015162.5:c.683A>T