ClinGen Allele Registry
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Canonical Allele Identifier:
PA096129
Gene: ABCA4
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000008328
RCV000008329
RCV000085494
RCV000415097
RCV000505063
RCV000623365
RCV000787486
RCV000787487
RCV000787768
RCV001198385
RCV001535670
RCV003224856
RCV004532312
ClinVar Variation:
7879
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Gly863Ala
CA119128
NM_000350.3:c.2588G>C