ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645495701
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
240985
ClinVar RCV Id:
RCV000234517
RCV001723822
RCV002418023
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Thr690Ala
CA1713272
NM_015120.4:c.2068A>G