ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645495991
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
384519
ClinVar RCV Id:
RCV000437171
RCV000665868
RCV002429400
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Arg3679Trp
CA1715104
NM_015120.4:c.11035C>T