ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645446088
Gene: ABCA1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_005493.2:p.Val771Met
NM_005502.4:c.2311G>A