ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645446125
Gene: ABCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
364415
ClinVar RCV Id:
RCV000282087
RCV000337098
RCV001526897
RCV002338955
RCV001490048
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005493.2:p.Ser1181Phe
CA5168397
NM_005502.4:c.3542C>T