ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA226969
Gene: ABCA4
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
104999
ClinVar RCV:
RCV000085454
RCV000408483
RCV001814056
ClinVar Variation:
99110
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Met1Val