ClinGen Allele Registry
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Canonical Allele Identifier:
PA096988
Gene: ABCA4
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
104990
ClinVar RCV:
RCV000085445
RCV000174470
RCV000260757
RCV000318324
RCV000353201
RCV000356519
RCV000986369
RCV001075850
RCV001098279
ClinVar Variation:
99101
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000341.2:p.Val643Met
CA201008
NM_000350.3:c.1927G>A