ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499280264
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1005123
ClinVar RCV Id:
RCV001301938
RCV002411961
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.His3518Arg
CA1715022
NM_015120.4:c.10553A>G