ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139745815
Gene: LCA5
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV001058654
RCV001271947
ClinVar Variation:
853774
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_859065.2:p.Ser621Asn
CA3900758
NM_181714.4:c.1862G>A