ClinGen Allele Registry
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Canonical Allele Identifier:
PA180170
Gene: LCA5
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000153448
RCV000318671
RCV000987742
RCV001515546
ClinVar Variation:
167255
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_859065.2:p.Gly656Asp
CA180169
NM_181714.4:c.1967G>A